C441R (p.Cys441Arg) variant of PRKN (O60260)
C441R (p.Cys441Arg) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive juvenile Parkinson disease 2; Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C441R (p.Cys441Arg) variant details
- p.Cys441Arg
- rs778305273
- ClinGen CA4089936
- ClinVar RCV001237187
- ClinVar RCV001780174
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive juvenile Parkinson disease 2; Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.97
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive juvenile Parkinson disease 2;)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0195
- Cited in: Complex relationship between Parkin mutations and Parkinson disease. (PMID 12116199)
- Cited in: Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile… (PMID 19801972)