E128* (p.Glu128Ter) variant of PKD1 (Polycystin-1)
E128* (p.Glu128Ter) in PKD1 (Polycystin-1) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E128* (p.Glu128Ter) variant details
- p.Glu128Ter
- rs2544883301
- ClinVar RCV004556961
- ClinVar RCV006264312
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)