E45Q (p.Glu45Gln) variant of HSD3B2 (P26439)
E45Q (p.Glu45Gln) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- gnomAD 1-119415552-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.29
- MetaLR 0.38
- MetaSVM -0.57
- CADD 15.20
- PolyPhen-2 0.18
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available