R20H (p.Arg20His) variant of HSD3B2 (P26439)
R20H (p.Arg20His) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- ExAC rs748018110
- TOPMed rs748018110
- gnomAD rs748018110
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.20
- MetaLR 0.26
- MetaSVM -0.80
- CADD 2.45
- PolyPhen-2 0.04
- SIFT 0.39
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available