E44D (p.Glu44Asp) variant of HSD3B2 (P26439)
E44D (p.Glu44Asp) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of 3 beta-Hydroxysteroid dehydrogenase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- 1000Genomes rs111333222
- ESP rs111333222
- ExAC rs111333222
- TOPMed rs111333222
- Conflicting interpretations
- 3 beta-Hydroxysteroid dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.60
- CADD 10.10
- PolyPhen-2 0.21
- SIFT 0.90
- ClinVar: Conflicting classifications of pathogenicity (3 beta-Hydroxysteroid dehydrogenase deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available