E118* (p.Glu118Ter) variant of HSD17B3 (P37058)
E118* (p.Glu118Ter) 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 0.75 / 1. The record also includes population frequency data and structural context.
E118* (p.Glu118Ter) variant details
- p.Glu118Ter
- rs2490085916
- ClinGen CA374125494
- ClinVar RCV003671044
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available