E16K (p.Glu16Lys) variant of MSH2 (DNA mismatch repair protein Msh2)
E16K (p.Glu16Lys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- gnomAD 2-47403237-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 32.00
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available