V19I (p.Val19Ile) variant of HSD3B2 (P26439)
V19I (p.Val19Ile) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V19I (p.Val19Ile) variant details
- p.Val19Ile
- rs143169543
- cosmic curated COSV10102
- 1000Genomes rs143169543
- ESP rs143169543
- Conflicting interpretations
- Inborn genetic diseases; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.84
- CADD 0.01
- PolyPhen-2 0.17
- SIFT 0.70
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; 3 beta-Hydroxysteroid dehydrogenase def)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available