R420P (p.Arg420Pro) variant of SYNJ1 (O43426)
R420P (p.Arg420Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
R420P (p.Arg420Pro) variant details
- p.Arg420Pro
- rs1060499619
- ClinGen CA410090187
- cosmic curated COSV10815
- ClinVar RCV001977051
- Uncertain significance
- Developmental and epileptic encephalopathy, 53; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 1.00
- MetaLR 0.16
- MetaSVM -0.92
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.56
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 53; not provided)
- EBI: Pathogenic (in PARK20)
- UniProt: Pathogenic (in PARK20)
- Population evidence available
- Cited in: Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive… (PMID 27496670)
- Cited in: The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized… (PMID 23804563)