P155L (p.Pro155Leu) variant of HSD3B2 (P26439)
P155L (p.Pro155Leu) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P155L (p.Pro155Leu) variant details
- p.Pro155Leu
- rs779418168
- cosmic curated COSV65593
- UniProt VAR 010524
- ExAC rs779418168
- Likely pathogenic
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.67
- MetaLR 0.67
- MetaSVM 0.50
- CADD 23.00
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Likely pathogenic (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the South Asian population (allele frequency 1.2e-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)