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Cortexa research tool·genomics·alphamissense
AlphaMissense Get Variant Score
Get AlphaMissense pathogenicity score for a specific missense variant. Input: UniProt ID and variant (e.g., 'p.R123H'). Returns score and classification (pathogenic/ambiguous/benign). State-of-the-art for VUS interpretation.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 17 lines · 425 chars
Examples (1)
Default AlphaMissense Get Variant Score call
public-safeinput
JSON · 4 lines · 39 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_AlphaMissense_get_variant_score
- Tool name
- AlphaMissense_get_variant_score
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse