R42L (p.Arg42Leu) variant of PRKN (O60260)
R42L (p.Arg42Leu) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PARK2 and PARK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- cosmic curated COSV10591
- 1000Genomes rs368134308
- ESP rs368134308
- ExAC rs368134308
- Pathogenic
- in PARK2 and PARK
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.67
- MetaLR 0.62
- MetaSVM 0.36
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Pathogenic (in PARK2 and PARK)
- UniProt: Pathogenic (in PARK2 and PARK)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.499