A22V (p.Ala22Val) variant of MSH3 (DNA mismatch repair protein Msh3)
A22V (p.Ala22Val) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- Ensembl rs1749190564
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- AlphaMissense 0.29
- MetaLR 0.39
- MetaSVM -0.77
- CADD 22.40
- PolyPhen-2 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available