Q1479K (p.Gln1479Lys) variant of SCN2A (Nav1.2)
Q1479K (p.Gln1479Lys) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes published literature and structural context.
Q1479K (p.Gln1479Lys) variant details
- p.Gln1479Lys
- rs1553462134
- ClinGen CA349034351
- ClinVar RCV000501194
- ClinVar RCV001865623
- Likely pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Likely pathogenic (in DEE11)
- UniProt: Likely pathogenic (in DEE11)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)