C33* (p.Cys33Ter) variant of PKD1 (Polycystin-1)
C33* (p.Cys33Ter) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C33* (p.Cys33Ter) variant details
- p.Cys33Ter
- rs2092941253
- ClinGen CA394282744
- ClinVar RCV001095573
- Ensembl rs2092941253
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)