V17A (p.Val17Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
V17A (p.Val17Ala) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in gastric cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- cosmic curated COSV51880
- ExAC rs769731040
- gnomAD rs769731040
- Uncertain significance
- in gastric cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- EBI: uncertain significance (in gastric cancer)
- UniProt: Uncertain significance (in gastric cancer)
- Structural context available