Variant 3-D Structural Triage
triage_variant_3dTriage an HGVS variant by assembling source-reported ClinVar pathogenicity, gnomAD gene-constraint scores, and context notes into one prioritised evidence report.
Instructions
Retrieve source-reported variant evidence for research.
Fuses the upstream signals this tool currently wires into a single prioritised report:
Pathogenicity — ClinVar interpretation + review status. The
alphamissense_score/alphamissense_interpretationfields are alwaysnull/ "Not available" here: AlphaMissense is not wired into this tool. For an AlphaMissense pathogenicity score usegenerate_variant_clinical_report.Population genetics — gnomAD LOEUF / pLI gene-constraint scores. Per-variant allele frequencies and the per-ancestry breakdown are not wired into this tool.
Disease associations — a placeholder note pointing at
get_target_diseases(); the Open Targets / MONDO traversal is a roadmap (Wave-3) item.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 the legacy pathogenicity_tier key as NOT_ASSESSED. Raw
verified ClinVar classifications remain source-attributed in the
pathogenicity section; they are not converted into a local risk tier.
Gene-relative candidates remain explicitly unverified. AlphaMissense
is not wired into this particular tool. The report is not a calibrated risk estimate.
Example: triage_variant_3d(hgvs='BRCA1:c.181T>G')
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| params | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |