L173R (p.Leu173Arg) variant of HSD3B2 (P26439)
L173R (p.Leu173Arg) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L173R (p.Leu173Arg) variant details
- p.Leu173Arg
- rs762479018
- ClinGen CA1035988
- ClinVar RCV001215298
- ClinVar RCV001536075
- Pathogenic/Likely pathogenic
- Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.88
- MetaLR 0.78
- MetaSVM 0.74
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogen)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the REMAINING population (allele frequency 0.00017)
- 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 the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism… (PMID 8060486)