R800C (p.Arg800Cys) variant of SYNJ1 (O43426)
R800C (p.Arg800Cys) in SYNJ1 (O43426) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-onset Parkinson disease 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R800C (p.Arg800Cys) variant details
- p.Arg800Cys
- rs1286247510
- ClinGen CA410075311
- cosmic curated COSV59153
- ClinVar RCV003323271
- Likely pathogenic
- Early-onset Parkinson disease 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- MetaLR 0.98
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Early-onset Parkinson disease 20)
- EBI: Pathogenic (in PARK20)
- UniProt: Pathogenic (in PARK20)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel… (PMID 28502045)
- Cited in: A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations. (PMID 33349335)