R33P (p.Arg33Pro) variant of PRKN (O60260)
R33P (p.Arg33Pro) in PRKN (O60260) is a missense 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 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- ESP rs147757966
- ExAC rs147757966
- TOPMed rs147757966
- gnomAD rs147757966
- Pathogenic
- in PARK2
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.61
- MetaLR 0.41
- MetaSVM -0.16
- CADD 24.80
- SIFT 0.11
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.691