S52* (p.Ser52Ter) variant of PKD1 (Polycystin-1)
S52* (p.Ser52Ter) 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 0.78 / 1. The record also includes population frequency data and structural context.
S52* (p.Ser52Ter) variant details
- p.Ser52Ter
- rs2092940490
- ClinGen CA394282394
- ClinVar RCV003236130
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available