V1408A (p.Val1408Ala) variant of SCN2A (Nav1.2)
V1408A (p.Val1408Ala) 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 0.88 / 1. The record also includes published literature and structural context.
V1408A (p.Val1408Ala) variant details
- p.Val1408Ala
- rs1574716488
- ClinGen CA349031660
- ClinVar RCV000805576
- ClinVar RCV000853351
- Pathogenic/Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)