V57A (p.Val57Ala) variant of HSD3B2 (P26439)
V57A (p.Val57Ala) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- gnomAD rs1347889459
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.39
- MetaLR 0.44
- MetaSVM -0.49
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.15
- Population evidence available
- Structural context available