V17D (p.Val17Asp) variant of MSH2 (DNA mismatch repair protein Msh2)
V17D (p.Val17Asp) 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 0.52 / 1. The record also includes structural context.
V17D (p.Val17Asp) variant details
- p.Val17Asp
- ExAC rs769731040
- gnomAD rs769731040
- Uncertain significance
- in gastric cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.35
- EBI: uncertain significance (in gastric cancer)
- UniProt: Uncertain significance (in gastric cancer)
- Structural context available