R33* (p.Arg33Ter) variant of PRKN (O60260)
R33* (p.Arg33Ter) in PRKN (O60260) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PARK2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R33* (p.Arg33Ter) variant details
- p.Arg33Ter
- rs770591350
- ClinGen CA4090516
- ClinVar RCV001058075
- ExAC rs770591350
- Pathogenic
- in PARK2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 45.00
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.691