E67* (p.Glu67Ter) variant of HSD17B3 (P37058)
E67* (p.Glu67Ter) 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 0.63 / 1. The record also includes structural context.
E67* (p.Glu67Ter) variant details
- p.Glu67Ter
- rs1017003712
- ClinGen CA374126349
- ClinVar RCV003821744
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.60
- MetaLR 0.66
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.38
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available