F402I (p.Phe402Ile) variant of SCN1A (Nav1.1)
F402I (p.Phe402Ile) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe myoclonic epilepsy in infancy; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
F402I (p.Phe402Ile) variant details
- p.Phe402Ile
- rs796053094
- ClinGen CA349070987
- ClinVar RCV000986906
- ClinVar RCV006556866
- Likely pathogenic
- Severe myoclonic epilepsy in infancy; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Severe myoclonic epilepsy in infancy; Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)