Y1699C (p.Tyr1699Cys) variant of LRRK2 (Q5S007)
Y1699C (p.Tyr1699Cys) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
Y1699C (p.Tyr1699Cys) variant details
- p.Tyr1699Cys
- rs35801418
- ClinGen CA339920
- ClinVar RCV000002014
- UniProt VAR 024954
- Pathogenic
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- MutPred 0.72
- ClinVar: Pathogenic (Autosomal dominant Parkinson disease 8)
- EBI: Pathogenic (in PARK8)
- UniProt: Pathogenic (in PARK8)
- Structural context available
- Cited in: Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. (PMID 15541308)
- Cited in: Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. (PMID 15541309)