R21S (p.Arg21Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
R21S (p.Arg21Ser) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- gnomAD 2-47403252-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.36
- ESM-1b 0.86
- AlphaMissense 0.54
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.49
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Literature evidence available