Y849C (p.Tyr849Cys) variant of SYNJ1 (O43426)
Y849C (p.Tyr849Cys) in SYNJ1 (O43426) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 53; Early-onset Parkinson disease 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
Y849C (p.Tyr849Cys) variant details
- p.Tyr849Cys
- rs1057524877
- ClinGen CA16609236
- ClinVar RCV000445434
- ClinVar RCV002522729
- Uncertain significance
- Developmental and epileptic encephalopathy, 53; Early-onset Parkinson disease 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 53; Early-onset Park)
- EBI: Pathogenic (in DEE53)
- UniProt: Pathogenic (in DEE53)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. (PMID 27435091)
- Cited in: A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations. (PMID 33349335)