R219Q (p.Arg219Gln) variant of SYNJ1 (O43426)
R219Q (p.Arg219Gln) in SYNJ1 (O43426) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Young-onset Parkinson disease; Early-onset Parkinson disease 20; Developmental a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
R219Q (p.Arg219Gln) variant details
- p.Arg219Gln
- rs398122403
- ClinGen CA145358
- cosmic curated COSV59155
- ClinVar RCV000074432
- Conflicting interpretations
- Young-onset Parkinson disease; Early-onset Parkinson disease 20; Developmental a
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- MetaLR 0.74
- MetaSVM 0.79
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Early-onset Parkinson disease 20; Developmental and epileptic en)
- EBI: Pathogenic (in PARK20)
- UniProt: Pathogenic (in PARK20)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Cited in: Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. (PMID 23804577)
- Cited in: The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized… (PMID 23804563)