name: tooluniverse-variant-interpretation description: Systematic clinical variant interpretation from raw variant calls to ACMG-classified recommendations with structural impact analysis. Aggregates evidence from ClinVar, gnomAD, CIViC, UniProt, and PDB across ACMG criteria. Produces pathogenicity scores (0-100), clinical recommendations, and treatment implications. Use when interpreting genetic variants, classifying variants of uncertain significance (VUS), performing ACMG variant classification, or translating variant calls to clinical actionability.

Clinical Variant Interpreter

Systematic variant interpretation skill using ToolUniverse - from raw variant calls to ACMG-classified clinical recommendations with structural impact analysis.

Problem This Skill Solves

Clinical labs and researchers face critical challenges in variant interpretation:

1. Variant classification uncertainty - VUS (Variants of Uncertain Significance) comprise 40-60% of clinical variants
2. Evidence aggregation burden - Must integrate data from 10+ databases per variant
3. Structural context missing - Traditional annotation ignores 3D protein impact
4. Clinical actionability unclear - How does classification translate to patient care?