R43G (p.Arg43Gly) variant of HSD3B2 (P26439)
R43G (p.Arg43Gly) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- ESP rs374785266
- ExAC rs374785266
- TOPMed rs374785266
- gnomAD rs374785266
- Uncertain significance
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.43
- MetaLR 0.54
- MetaSVM -0.32
- CADD 16.80
- PolyPhen-2 0.48
- SIFT 0.28
- ClinVar: Uncertain significance (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available