P341L (p.Pro341Leu) variant of HSD3B2 (P26439)
P341L (p.Pro341Leu) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
P341L (p.Pro341Leu) variant details
- p.Pro341Leu
- rs121964897
- ClinGen CA121937
- ClinVar RCV000012977
- UniProt VAR 065665
- Pathogenic
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.71
- MetaLR 0.88
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Structural context available
- Cited in: Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal… (PMID 18252794)
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)