R223Q (p.Arg223Gln) variant of SCN2A (Nav1.2)
R223Q (p.Arg223Gln) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R223Q (p.Arg223Gln) variant details
- p.Arg223Gln
- rs121917752
- ClinGen CA122772
- ClinVar RCV000013739
- ClinVar RCV000810006
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.96
- CADD 22.30
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available
- Cited in: Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic… (PMID 11326335)
- Cited in: Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. (PMID 15048894)