S1383R (p.Ser1383Arg) variant of SYNJ1 (O43426)
S1383R (p.Ser1383Arg) in SYNJ1 (O43426) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PARK20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
S1383R (p.Ser1383Arg) variant details
- p.Ser1383Arg
- rs769099271
- ClinGen CA10003148
- ClinVar RCV001067626
- UniProt VAR 070906
- Uncertain significance
- in PARK20
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.56
- MetaLR 0.61
- MetaSVM 0.30
- SIFT 0.00
- EBI: Variant of uncertain significance (in PARK20)
- UniProt: Uncertain significance (in PARK20)
- Population evidence available
- 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)