G284R (p.Gly284Arg) variant of PRKN (O60260)
G284R (p.Gly284Arg) 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 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G284R (p.Gly284Arg) variant details
- p.Gly284Arg
- rs751037529
- ClinGen CA4090202
- ClinVar RCV000460040
- ClinVar RCV003313956
- Pathogenic
- not provided; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.91
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: 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 2.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.389
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)