E12E (p.Glu12Glu) variant of MSH2 (DNA mismatch repair protein Msh2)
E12E (p.Glu12Glu) in MSH2 (DNA mismatch repair protein Msh2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- rs1558451303
- gnomAD 2-47403227-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 12.80
- Population evidence available
- Structural context available
- Literature evidence available