p.Thr8 Glu12del variant of MSH2 (DNA mismatch repair protein Msh2)
p.Thr8 Glu12del in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr8 Glu12del variant details
- rs1184949521
- gnomAD 2-47403208-AGGAGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 22.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available