R33L (p.Arg33Leu) variant of PRKN (O60260)
R33L (p.Arg33Leu) 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 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- ESP rs147757966
- ExAC rs147757966
- TOPMed rs147757966
- gnomAD rs147757966
- Pathogenic
- in PARK2
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.33
- MetaLR 0.27
- MetaSVM -0.52
- CADD 21.00
- PolyPhen-2 0.13
- SIFT 0.25
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.691