R1882G (p.Arg1882Gly) variant of SCN2A (Nav1.2)
R1882G (p.Arg1882Gly) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R1882G (p.Arg1882Gly) variant details
- p.Arg1882Gly
- rs796053166
- ClinGen CA318045
- ClinVar RCV000189180
- ClinVar RCV001200926
- Pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 0.76
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Episodic ataxia, type 9)
- EBI: Pathogenic (in EA9)
- UniProt: Pathogenic (in EA9)
- Structural context available
- Cited in: Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. (PMID 26645390)
- Cited in: Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val. (PMID 27159988)