V116G (p.Val116Gly) variant of HSD3B2 (P26439)
V116G (p.Val116Gly) 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 structural context.
V116G (p.Val116Gly) variant details
- p.Val116Gly
- rs2526391280
- ClinGen CA341396013
- ClinVar RCV003459900
- Likely pathogenic
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- ClinVar: Likely pathogenic (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available