A82P (p.Ala82Pro) variant of HSD3B2 (P26439)
A82P (p.Ala82Pro) 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 record also includes variant effect predictions, published literature, and structural context.
A82P (p.Ala82Pro) variant details
- p.Ala82Pro
- UniProt VAR 070028
- Likely pathogenic
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- MetaLR 0.95
- MetaSVM 1.09
- SIFT 0.00
- ClinVar: Likely pathogenic (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Structural context available
- Cited in: In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations. (PMID 22579964)
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)