E142K (p.Glu142Lys) variant of HSD3B2 (P26439)
E142K (p.Glu142Lys) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E142K (p.Glu142Lys) variant details
- p.Glu142Lys
- rs80358219
- ClinGen CA121931
- cosmic curated COSV65592
- ClinVar RCV000012973
- Pathogenic/Likely pathogenic
- not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.83
- MetaLR 0.91
- MetaSVM 1.07
- CADD 24.90
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid… (PMID 12050213)