V213A (p.Val213Ala) variant of SCN2A (Nav1.2)
V213A (p.Val213Ala) 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; Malignant migrating partial seizures of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
V213A (p.Val213Ala) variant details
- p.Val213Ala
- rs1574556643
- ClinGen CA349017420
- ClinVar RCV000986850
- ClinVar RCV002283516
- Pathogenic/Likely pathogenic
- Seizures, benign familial infantile, 3; Malignant migrating partial seizures of
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Pathogenic/Likely pathogenic (Seizures, benign familial infantile, 3; Malignant migrating part)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)