R1319W (p.Arg1319Trp) variant of SCN2A (Nav1.2)
R1319W (p.Arg1319Trp) 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 Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R1319W (p.Arg1319Trp) variant details
- p.Arg1319Trp
- rs190111194
- ClinGen CA1940198
- ClinVar RCV000469153
- ClinVar RCV001270400
- Pathogenic/Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- CADD 26.40
- ClinVar: Pathogenic/Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)