G9C (p.Gly9Cys) variant of MSH3 (DNA mismatch repair protein Msh3)
G9C (p.Gly9Cys) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- gnomAD 5-80654752-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.24
- CADD 22.40
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available