A13V (p.Ala13Val) variant of MSH3 (DNA mismatch repair protein Msh3)
A13V (p.Ala13Val) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 5-80654765-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- CADD 11.90
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available