E59G (p.Glu59Gly) variant of HSD3B2 (P26439)
E59G (p.Glu59Gly) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E59G (p.Glu59Gly) variant details
- p.Glu59Gly
- gnomAD 1-119419451-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.62
- MetaLR 0.70
- MetaSVM 0.43
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available