A2D (p.Ala2Asp) variant of APC (Adenomatous polyposis coli protein)
A2D (p.Ala2Asp) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- NCI-TCGA Cosmic COSV5732
- cosmic curated COSV57323
- Ensembl rs2149737216
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- ESM-1b 0.00
- AlphaMissense 0.73
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available