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.

Livelast probed 2026-04-30 23:07Z· 101msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 101ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "uniprot_id": {
      "description": "UniProt accession ID (e.g., 'P00533' for EGFR)",
      "type": "string"
    },
    "variant": {
      "description": "Variant in protein notation: p.X123Y or X123Y where X is reference amino acid, 123 is position, Y is variant (e.g., 'p.R123H', 'V600E')",
      "type": "string"
    }
  },
  "required": [
    "uniprot_id",
    "variant"
  ],
  "type": "object"
}

Examples (1)

Default AlphaMissense Get Variant Score call

public-safeinput

{
  "uniprot_id": "",
  "variant": ""
}

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

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