I1640F (p.Ile1640Phe) variant of SCN2A (Nav1.2)
I1640F (p.Ile1640Phe) 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 Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
I1640F (p.Ile1640Phe) variant details
- p.Ile1640Phe
- rs1702006673
- ClinGen CA349037785
- ClinVar RCV001036227
- ClinVar RCV001809957
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)