V17G (p.Val17Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
V17G (p.Val17Gly) 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 0.37 / 1. The record also includes population frequency data and structural context.
V17G (p.Val17Gly) variant details
- p.Val17Gly
- ExAC rs769731040
- gnomAD rs769731040
- Uncertain significance
- in gastric cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.43
- ESM-1b 0.74
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.57
- CADD 12.60
- EBI: uncertain significance (in gastric cancer)
- UniProt: Uncertain significance (in gastric cancer)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available