P40A (p.Pro40Ala) variant of HSD3B2 (P26439)
P40A (p.Pro40Ala) 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.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- gnomAD 1-119415537-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.28
- MetaLR 0.50
- MetaSVM -0.36
- CADD 8.73
- PolyPhen-2 0.08
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available