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Variant 3-D Structural Triage

triage_variant_3d
Read-onlyIdempotent

Triage a missense variant by integrating ClinVar interpretation, gnomAD gene constraint, disease associations, and structural context to produce a pathogenicity tier (HIGH/MEDIUM/LOW/UNKNOWN).

Instructions

Comprehensive clinical triage for a missense variant.

Fuses the upstream signals this tool currently wires into a single prioritised report:

  1. Pathogenicity — ClinVar interpretation + review status. The alphamissense_score / alphamissense_interpretation fields are always null / "Not available" here: AlphaMissense is not wired into this tool. For an AlphaMissense pathogenicity score use generate_variant_clinical_report.

  2. Population genetics — gnomAD LOEUF / pLI gene-constraint scores. Per-variant allele frequencies and the per-ancestry breakdown are not wired into this tool.

  3. Disease associations — a placeholder note pointing at get_target_diseases(); the Open Targets / MONDO traversal is a roadmap (Wave-3) item.

  4. Structural context — a text note pointing at analyze_structural_confidence (resolve the gene to a UniProt accession first); the AlphaFold pLDDT / PAE join into this report is a roadmap (Wave-3) item.

Returns a pathogenicity_tier: HIGH / MEDIUM / LOW / UNKNOWN (derived from ClinVar; the AlphaMissense input is always absent here).

Example: triage_variant_3d(hgvs='BRCA1:c.181T>G')

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
paramsYes

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
resultYes
Behavior5/5

Does the description disclose side effects, auth requirements, rate limits, or destructive behavior?

Annotations (readOnlyHint, idempotentHint, openWorldHint) are consistent with a read-only analysis tool. The description adds transparency by disclosing that specific fields (alphamissense_score, alphamissense_interpretation) are always null/not available, and that several features are roadmap items (not implemented). No contradiction with annotations.

Agents need to know what a tool does to the world before calling it. Descriptions should go beyond structured annotations to explain consequences.

Conciseness4/5

Is the description appropriately sized, front-loaded, and free of redundancy?

The description is well-structured with bullet points and clear sections, front-loading the purpose. It is longer than minimal but every sentence adds value by specifying limitations and cross-referencing siblings. Could be slightly more concise, but overall good.

Shorter descriptions cost fewer tokens and are easier for agents to parse. Every sentence should earn its place.

Completeness5/5

Given the tool's complexity, does the description cover enough for an agent to succeed on first attempt?

Given the tool's complexity (multi-source triage) and the presence of an output schema, the description is complete. It explains what the tool does, what it does not do, what it returns (pathogenicity_tier), and provides an example. No significant gaps for an agent to misinterpret.

Complex tools with many parameters or behaviors need more documentation. Simple tools need less. This dimension scales expectations accordingly.

Parameters3/5

Does the description clarify parameter syntax, constraints, interactions, or defaults beyond what the schema provides?

The input schema already provides comprehensive descriptions for all parameters. The tool description adds some contextual background (e.g., why include_structure points to structural analysis), but the schema descriptions are sufficient. Given the schema descriptions are detailed, the description's added value for parameter semantics is minimal, so baseline score of 3 is appropriate.

Input schemas describe structure but not intent. Descriptions should explain non-obvious parameter relationships and valid value ranges.

Purpose5/5

Does the description clearly state what the tool does and how it differs from similar tools?

The description clearly states it performs 'comprehensive clinical triage for a missense variant' and lists the fused components (pathogenicity, population genetics, disease associations, structural context). It distinguishes from sibling tools by explicitly noting that AlphaMissense scores are not available here and directing to generate_variant_clinical_report for that, and to analyze_structural_confidence for structural analysis.

Agents choose between tools based on descriptions. A clear purpose with a specific verb and resource helps agents select the right tool.

Usage Guidelines5/5

Does the description explain when to use this tool, when not to, or what alternatives exist?

Provides explicit when-to-use and when-not-to-use guidance: mentions that AlphaMissense is not wired and directs to generate_variant_clinical_report, notes that per-variant allele frequencies are not included, and points to analyze_structural_confidence for structural context. Also notes roadmap items that are not yet available.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

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