E50K (p.Glu50Lys) variant of CHEK1 (O14757)
E50K (p.Glu50Lys) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- Ensembl rs2135972346
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.25
- CADD 20.60
- PolyPhen-2 0.11
- SIFT 0.30
- Population evidence available
- Structural context available