R21R (p.Arg21Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
R21R (p.Arg21Arg) in MSH2 (DNA mismatch repair protein Msh2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R21R (p.Arg21Arg) variant details
- p.Arg21Arg
- rs1060504419
- gnomAD 2-47403254-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 13.70
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Literature evidence available