Variant 3-D Structural Triage
triage_variant_3dTriage a missense variant by integrating AlphaFold structural context, AlphaMissense pathogenicity, gnomAD frequencies, and disease associations to output a pathogenicity tier.
Instructions
Comprehensive clinical triage for a missense variant.
Fuses structural, pathogenicity, population-genetics, and disease context into a single prioritised report:
Structural context — AlphaFold pLDDT at the mutated residue, PAE in the local neighbourhood (confidence of structural context)
Pathogenicity — AlphaMissense score (0–1, calibrated to P/LP threshold ≥ 0.564), ClinVar interpretation + review status
Population genetics — gnomAD global AF, per-ancestry breakdown, LOEUF gene constraint score
Disease associations — MONDO disease record, Open Targets evidence scores for the host gene
Returns a pathogenicity_tier: HIGH / MEDIUM / LOW / UNKNOWN.
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 |