E215D (p.Glu215Asp) variant of HSD17B3 (P37058)
E215D (p.Glu215Asp) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E215D (p.Glu215Asp) variant details
- p.Glu215Asp
- rs115063639
- ClinGen CA5140317
- ClinVar RCV003146073
- ClinVar RCV003561189
- Pathogenic/Likely pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.79
- MetaLR 0.90
- MetaSVM 0.89
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 8550739)
- Cited in: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 11158067)