C5S (p.Cys5Ser) variant of HSD3B2 (P26439)
C5S (p.Cys5Ser) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C5S (p.Cys5Ser) variant details
- p.Cys5Ser
- rs376207606
- ClinGen CA1035859
- cosmic curated COSV65593
- ClinVar RCV000391205
- Conflicting interpretations
- not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.75
- MetaLR 0.58
- MetaSVM 0.08
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available