R1319P (p.Arg1319Pro) variant of SCN2A (Nav1.2)
R1319P (p.Arg1319Pro) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.87 / 1. The record also includes published literature and structural context.
R1319P (p.Arg1319Pro) variant details
- p.Arg1319Pro
- rs121917753
- ClinGen CA349030030
- ClinVar RCV002651525
- ClinVar RCV004594673
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)