E62K (p.Glu62Lys) variant of SETBP1 (SET-binding protein)
E62K (p.Glu62Lys) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- gnomAD 18-44701530-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- MetaLR 0.34
- MetaSVM -0.48
- CADD 23.50
- PolyPhen-2 0.38
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available