L128* (p.Leu128Ter) variant of HSD17B3 (P37058)
L128* (p.Leu128Ter) 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 0.55 / 1. The record also includes population frequency data and structural context.
L128* (p.Leu128Ter) variant details
- p.Leu128Ter
- rs767765046
- ClinGen CA196624271
- ClinVar RCV003724460
- ExAC rs767765046
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 27.60
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available