R275W (p.Arg275Trp) variant of PRKN (O60260)
R275W (p.Arg275Trp) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Young-onset Parkinson disease; Ovarian cancer; Autosomal recessive juvenile Park. 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.
R275W (p.Arg275Trp) variant details
- p.Arg275Trp
- rs34424986
- ClinGen CA254086
- cosmic curated COSV58220
- ClinVar RCV000007466
- Pathogenic/Likely pathogenic
- Young-onset Parkinson disease; Ovarian cancer; Autosomal recessive juvenile Park
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.75
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Young-onset Parkinson disease; Ovarian cancer; Autosomal recessi)
- EBI: Pathogenic (in PARK2 and PARK)
- UniProt: Pathogenic (in PARK2 and PARK)
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0208
- Cited in: A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French… (PMID 10072423)
- Cited in: Association between early-onset Parkinson's disease and mutations in the parkin gene. (PMID 10824074)