A2V (p.Ala2Val) variant of APC (Adenomatous polyposis coli protein)
A2V (p.Ala2Val) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs2149737216
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.77
- MetaLR 0.65
- MetaSVM 0.45
- SIFT 0.03
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available