E65D (p.Glu65Asp) variant of HSD3B2 (P26439)
E65D (p.Glu65Asp) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E65D (p.Glu65Asp) variant details
- p.Glu65Asp
- gnomAD 1-119419470-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.17
- MetaLR 0.25
- MetaSVM -0.78
- CADD 3.65
- PolyPhen-2 0.01
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available