A10E (p.Ala10Glu) variant of HSD3B2 (P26439)
A10E (p.Ala10Glu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A10E (p.Ala10Glu) variant details
- p.Ala10Glu
- rs28934880
- ClinGen CA121927
- ClinVar RCV000012971
- UniProt VAR 010517
- Likely pathogenic
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.84
- MetaLR 0.79
- MetaSVM 0.64
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase… (PMID 10843183)