C253Y (p.Cys253Tyr) variant of PRKN (O60260)
C253Y (p.Cys253Tyr) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ovarian cancer; Autosomal recessive juvenile Parkinson disease 2; Lung cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C253Y (p.Cys253Tyr) variant details
- p.Cys253Tyr
- rs747427602
- ClinGen CA4090237
- ClinVar RCV000799872
- ClinVar RCV000995593
- Pathogenic/Likely pathogenic
- Ovarian cancer; Autosomal recessive juvenile Parkinson disease 2; Lung cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.82
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Ovarian cancer; Autosomal recessive juvenile Parkinson disease 2)
- EBI: Pathogenic (in PARK)
- UniProt: Pathogenic (in PARK)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0308
- Cited in: Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. (PMID 12730996)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)