G12A (p.Gly12Ala) variant of HSD3B2 (P26439)
G12A (p.Gly12Ala) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- gnomAD 1-119415454-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available