E41V (p.Glu41Val) variant of HSD3B2 (P26439)
E41V (p.Glu41Val) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E41V (p.Glu41Val) variant details
- p.Glu41Val
- TOPMed rs1651680292
- gnomAD rs1651680292
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.31
- MetaLR 0.59
- MetaSVM -0.20
- CADD 23.00
- PolyPhen-2 0.91
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available