G18V (p.Gly18Val) variant of MSH2 (DNA mismatch repair protein Msh2)
G18V (p.Gly18Val) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- gnomAD 2-47403244-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 26.70
- PolyPhen-2 0.72
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available