N1378I (p.Asn1378Ile) variant of SCN1A (Nav1.1)
N1378I (p.Asn1378Ile) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; Severe myoclonic epilep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
N1378I (p.Asn1378Ile) variant details
- p.Asn1378Ile
- rs1131691775
- ClinGen CA349050331
- ClinVar RCV000850510
- Ensembl rs1131691775
- Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Severe myoclonic epilep
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.88
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Severe)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)