E16* (p.Glu16Ter) variant of MSH2 (DNA mismatch repair protein Msh2)
E16* (p.Glu16Ter) in MSH2 (DNA mismatch repair protein Msh2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- gnomAD 2-47403237-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.887
- CADD 44.00
- Population evidence available
- Structural context available
- Literature evidence available