E2K (p.Glu2Lys) variant of SETBP1 (SET-binding protein)
E2K (p.Glu2Lys) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 18-44701350-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.70
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available