Q4Q (p.Gln4Gln) variant of MSH2 (DNA mismatch repair protein Msh2)
Q4Q (p.Gln4Gln) in MSH2 (DNA mismatch repair protein Msh2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q4Q (p.Gln4Gln) variant details
- p.Gln4Gln
- rs878853800
- gnomAD 2-47403203-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 11.60
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available