G250V (p.Gly250Val) variant of HSD3B2 (P26439)
G250V (p.Gly250Val) 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.
G250V (p.Gly250Val) variant details
- p.Gly250Val
- UniProt VAR 083841
- Likely pathogenic
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- MetaLR 0.89
- MetaSVM 1.05
- SIFT 0.00
- ClinVar: Likely pathogenic (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Structural context available
- Cited in: A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight… (PMID 25322271)
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)