I1638N (p.Ile1638Asn) variant of SCN1A (Nav1.1)
I1638N (p.Ile1638Asn) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Generalized epilepsy with febrile seizures plus, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
I1638N (p.Ile1638Asn) variant details
- p.Ile1638Asn
- rs1057521079
- ClinGen CA16603930
- ClinVar RCV000417978
- ClinVar RCV001004732
- Pathogenic/Likely pathogenic
- not provided; Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (not provided; Generalized epilepsy with febrile seizures plus, t)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. (PMID 23195492)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)