T240R (p.Thr240Arg) variant of PRKN (O60260)
T240R (p.Thr240Arg) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T240R (p.Thr240Arg) variant details
- p.Thr240Arg
- rs137853054
- ClinGen CA254077
- ClinVar RCV000007452
- UniProt VAR 019748
- Pathogenic
- Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.67
- CADD 23.40
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive juvenile Parkinson disease 2)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.808
- Cited in: Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. (PMID 10888878)
- Cited in: Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease. (PMID 11431533)