E12G (p.Glu12Gly) variant of MSH2 (DNA mismatch repair protein Msh2)
E12G (p.Glu12Gly) in MSH2 (DNA mismatch repair protein Msh2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- rs63750614
- gnomAD 2-47403223-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 33.00
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Literature evidence available