E163K (p.Glu163Lys) variant of PARK7 (Parkinson disease protein 7)
E163K (p.Glu163Lys) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in PARK7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E163K (p.Glu163Lys) variant details
- p.Glu163Lys
- rs74315354
- ClinVar RCV000007484
- UniProt VAR 034801
- ExAC rs74315354
- no classification for the single variant
- in PARK7
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.70
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: no classification for the single variant (in PARK7)
- EBI: Pathogenic (in PARK7)
- UniProt: Pathogenic (in PARK7)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. (PMID 16240358)
- Cited in: Parkinson's disease-related DJ-1 functions in thiol quality control against aldehyde attack in vitro. (PMID 28993701)