F46Y (p.Phe46Tyr) variant of HSD3B2 (P26439)
F46Y (p.Phe46Tyr) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F46Y (p.Phe46Tyr) variant details
- p.Phe46Tyr
- gnomAD 1-119415556-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.44
- MetaLR 0.55
- MetaSVM -0.04
- CADD 25.20
- PolyPhen-2 0.90
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available