R42P (p.Arg42Pro) variant of PRKN (O60260)
R42P (p.Arg42Pro) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R42P (p.Arg42Pro) variant details
- p.Arg42Pro
- rs368134308
- ClinGen CA4090505
- ClinVar RCV000797973
- ClinVar RCV006459919
- Pathogenic
- not provided; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.74
- MetaLR 0.67
- MetaSVM 0.50
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Autosomal recessive juvenile Parkinson disease 2)
- EBI: Pathogenic (in PARK2 and PARK)
- UniProt: Pathogenic (in PARK2 and PARK)
- Most common in the Middle Eastern population (allele frequency 0.00059)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.499
- Cited in: Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. (PMID 10888878)
- Cited in: Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease. (PMID 11431533)