V20V (p.Val20Val) variant of MSH2 (DNA mismatch repair protein Msh2)
V20V (p.Val20Val) in MSH2 (DNA mismatch repair protein Msh2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V20V (p.Val20Val) variant details
- p.Val20Val
- rs368874228
- gnomAD 2-47403251-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 13.90
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available