W135* (p.Trp135Ter) variant of PKD1 (Polycystin-1)
W135* (p.Trp135Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W135* (p.Trp135Ter) variant details
- p.Trp135Ter
- rs1567219111
- ClinGen CA394395603
- ClinVar RCV000735699
- Ensembl rs1567219111
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)