G12E (p.Gly12Glu) variant of HSD3B2 (P26439)
G12E (p.Gly12Glu) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency; Congenital adrenal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs756607591
- ClinGen CA1035865
- ClinVar RCV002045814
- ClinVar RCV005008420
- Pathogenic
- not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency; Congenital adrenal
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency; Co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Amish population (allele frequency 0.033)
- Structural context available