Clinical Variant Interpreter

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

Triggers

Use this skill when users:

• Ask about variant interpretation, classification, or pathogenicity
• Have VCF data needing clinical annotation
• Need ACMG classification for variants
• Want structural impact analysis for missense variants

Key Principles

1. ACMG-Guided - Follow ACMG/AMP 2015 guidelines with explicit evidence codes
2. Structural Evidence - Use AlphaFold2 for novel structural impact analysis
3. Population Context - gnomAD frequencies with ancestry-specific data
4. Actionable Output - Clear recommendations, not just classifications
5. English-first queries - Always use English terms in tool calls; respond in user's language