G18C (p.Gly18Cys) variant of MSH2 (DNA mismatch repair protein Msh2)
G18C (p.Gly18Cys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- gnomAD 2-47403243-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available