E65K (p.Glu65Lys) variant of HSD3B2 (P26439)
E65K (p.Glu65Lys) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- gnomAD 1-119419468-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- MetaLR 0.20
- MetaSVM -0.92
- CADD 7.33
- PolyPhen-2 0.01
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available