P186L (p.Pro186Leu) variant of HSD3B2 (P26439)
P186L (p.Pro186Leu) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P186L (p.Pro186Leu) variant details
- p.Pro186Leu
- TOPMed rs1651893495
- UniProt VAR 010527
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.76
- MetaLR 0.63
- MetaSVM 0.23
- CADD 23.70
- PolyPhen-2 0.52
- SIFT 0.09
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Population evidence available
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid… (PMID 7833923)