V3A (p.Val3Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
V3A (p.Val3Ala) in MSH2 (DNA mismatch repair protein Msh2) 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 0.22 / 1. The record also includes structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- Ensembl rs1573422534
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- ESM-1b 0.00
- AlphaMissense 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available