E93K (p.Glu93Lys) variant of HSD17B3 (P37058)
E93K (p.Glu93Lys) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E93K (p.Glu93Lys) variant details
- p.Glu93Lys
- rs753360928
- ClinGen CA5140482
- cosmic curated COSV64557
- ClinVar RCV003324315
- Pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.58
- MetaLR 0.60
- MetaSVM 0.09
- CADD 33.00
- PolyPhen-2 0.85
- SIFT 0.08
- ClinVar: Pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available