D74G (p.Asp74Gly) variant of HSD3B2 (P26439)
D74G (p.Asp74Gly) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D74G (p.Asp74Gly) variant details
- p.Asp74Gly
- gnomAD 1-119419496-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.35
- MetaLR 0.06
- MetaSVM -0.94
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available