A10V (p.Ala10Val) variant of HSD3B2 (P26439)
A10V (p.Ala10Val) in HSD3B2 (P26439) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs28934880
- UniProt VAR 010518
- TOPMed rs28934880
- gnomAD rs28934880
- Pathogenic
- in AH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.83
- MetaLR 0.79
- MetaSVM 0.61
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. (PMID 10651755)