E64D (p.Glu64Asp) variant of PARK7 (Parkinson disease protein 7)
E64D (p.Glu64Asp) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive early-onset Parkinson disease 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E64D (p.Glu64Asp) variant details
- p.Glu64Asp
- rs74315353
- ClinGen CA254096
- ClinVar RCV000007483
- UniProt VAR 020493
- Pathogenic
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.36
- CADD 34.00
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Pathogenic (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Pathogenic (in PARK7)
- UniProt: Pathogenic (in PARK7)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1. (PMID 14607841)
- Cited in: Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). (PMID 15365989)