L42W (p.Leu42Trp) variant of HSD3B2 (P26439)
L42W (p.Leu42Trp) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L42W (p.Leu42Trp) variant details
- p.Leu42Trp
- gnomAD 1-119415544-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.26
- MetaLR 0.68
- MetaSVM -0.22
- CADD 16.60
- PolyPhen-2 0.89
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available