L49P (p.Leu49Pro) variant of HSD3B2 (P26439)
L49P (p.Leu49Pro) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- gnomAD 1-119419421-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.49
- MetaLR 0.45
- MetaSVM -0.23
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available