E93* (p.Glu93Ter) variant of HSD17B3 (P37058)
E93* (p.Glu93Ter) in HSD17B3 (P37058) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
E93* (p.Glu93Ter) variant details
- p.Glu93Ter
- cosmic curated COSV10093
- ExAC rs753360928
- TOPMed rs753360928
- gnomAD rs753360928
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.889
- CADD 50.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available