R1626Q (p.Arg1626Gln) variant of SCN2A (Nav1.2)
R1626Q (p.Arg1626Gln) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SCN2A-related disorder; not provided; Seizures, benign familial infantile, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R1626Q (p.Arg1626Gln) variant details
- p.Arg1626Gln
- rs796053155
- ClinGen CA318012
- ClinVar RCV000189169
- ClinVar RCV000679890
- Pathogenic
- SCN2A-related disorder; not provided; Seizures, benign familial infantile, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (SCN2A-related disorder; not provided; Seizures, benign familial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)