L166P (p.Leu166Pro) variant of PARK7 (Parkinson disease protein 7)
L166P (p.Leu166Pro) 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 0.90 / 1. The record also includes published literature and structural context.
L166P (p.Leu166Pro) variant details
- p.Leu166Pro
- rs28938172
- ClinGen CA254090
- ClinVar RCV000007480
- UniProt VAR 020498
- Pathogenic
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Pathogenic (in PARK7)
- UniProt: Pathogenic (in PARK7)
- Structural context available
- Cited in: Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. (PMID 12446870)
- Cited in: L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. (PMID 12851414)