E41Q (p.Glu41Gln) variant of HSD3B2 (P26439)
E41Q (p.Glu41Gln) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E41Q (p.Glu41Gln) variant details
- p.Glu41Gln
- gnomAD 1-119415540-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.85
- CADD 12.20
- PolyPhen-2 0.13
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available