K48E (p.Lys48Glu) variant of HSD3B2 (P26439)
K48E (p.Lys48Glu) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD 1-119415561-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.22
- MetaLR 0.16
- MetaSVM -0.93
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available