Y264C (p.Tyr264Cys) variant of HSD3B2 (P26439)
Y264C (p.Tyr264Cys) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y264C (p.Tyr264Cys) variant details
- p.Tyr264Cys
- rs1651911095
- ClinGen CA341398369
- ClinVar RCV003459923
- gnomAD rs1651911095
- Likely pathogenic
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.77
- MetaLR 0.74
- MetaSVM 0.60
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available