A2A (p.Ala2Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
A2A (p.Ala2Ala) in MSH2 (DNA mismatch repair protein Msh2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs368270856
- gnomAD 2-47403197-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available