R20C (p.Arg20Cys) variant of HSD3B2 (P26439)
R20C (p.Arg20Cys) 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 0.26 / 1. The record also includes population frequency data and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs139191056
- ESP rs139191056
- ExAC rs139191056
- TOPMed rs139191056
- Uncertain significance
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.26
- MetaLR 0.29
- MetaSVM -0.78
- CADD 12.40
- PolyPhen-2 0.08
- SIFT 0.18
- ClinVar: Uncertain significance (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available