A82T (p.Ala82Thr) variant of HSD3B2 (P26439)
A82T (p.Ala82Thr) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- rs757033996
- ClinGen CA1035929
- cosmic curated COSV65594
- ClinVar RCV001382058
- Pathogenic/Likely pathogenic
- not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.91
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature… (PMID 8185809)