Y793C (p.Tyr793Cys) variant of SYNJ1 (O43426)
Y793C (p.Tyr793Cys) in SYNJ1 (O43426) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y793C (p.Tyr793Cys) variant details
- p.Tyr793Cys
- rs1283151166
- ClinGen CA410075420
- ClinVar RCV000703018
- UniProt VAR 091259
- Uncertain significance
- Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- MetaLR 0.95
- MetaSVM 1.10
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Early-onset Parkinson disease 20; Developmental and epileptic en)
- EBI: Pathogenic (in PARK20)
- UniProt: Pathogenic (in PARK20)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease. (PMID 31751865)
- Cited in: A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations. (PMID 33349335)