R33Q (p.Arg33Gln) variant of PRKN (O60260)
R33Q (p.Arg33Gln) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive juvenile Parkinson disease 2; Lung cancer; Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs147757966
- ClinGen CA4090515
- ClinVar RCV001090784
- ClinVar RCV003907954
- Pathogenic/Likely pathogenic
- Autosomal recessive juvenile Parkinson disease 2; Lung cancer; Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.40
- MetaLR 0.12
- MetaSVM -0.97
- CADD 18.70
- PolyPhen-2 0.32
- SIFT 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive juvenile Parkinson disease 2; Lung cancer; O)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.691
- Cited in: Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. (PMID 12730996)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)