R1319Q (p.Arg1319Gln) variant of SCN2A (Nav1.2)
R1319Q (p.Arg1319Gln) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1319Q (p.Arg1319Gln) variant details
- p.Arg1319Gln
- rs121917753
- ClinGen CA122773
- cosmic curated COSV51836
- ClinVar RCV000013740
- Pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.11
- CADD 32.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Cited in: Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. (PMID 15048894)
- Cited in: Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile… (PMID 17021166)