A82E (p.Ala82Glu) variant of PRKN (O60260)
A82E (p.Ala82Glu) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A82E (p.Ala82Glu) variant details
- p.Ala82Glu
- rs55774500
- ClinGen CA254080
- cosmic curated COSV58214
- ClinVar RCV000007454
- Benign/Likely benign
- not specified; not provided; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.56
- MetaLR 0.27
- MetaSVM -0.81
- CADD 3.14
- PolyPhen-2 0.01
- SIFT 0.85
- ClinVar: Benign/Likely benign (not specified; not provided; Autosomal recessive juvenile Parkin)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the HGDP:ADYGEI population (allele frequency 0.038)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.999
- Cited in: The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. (PMID 11487568)
- Cited in: Complex relationship between Parkin mutations and Parkinson disease. (PMID 12116199)