L234P (p.Leu234Pro) variant of HSD3B2 (P26439)
L234P (p.Leu234Pro) 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 0.79 / 1. The record also includes population frequency data and structural context.
L234P (p.Leu234Pro) variant details
- p.Leu234Pro
- rs1651905495
- ClinGen CA341398052
- ClinVar RCV003237406
- gnomAD rs1651905495
- Likely pathogenic
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.88
- MetaLR 0.82
- MetaSVM 0.76
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available