I227S (p.Ile227Ser) variant of SCN1A (Nav1.1)
I227S (p.Ile227Ser) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
I227S (p.Ile227Ser) variant details
- p.Ile227Ser
- rs121917937
- ClinGen CA285045
- ClinVar RCV000059455
- ClinVar RCV000188842
- Pathogenic
- Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Early-infantile DEE; not provided; Severe myoclonic epilepsy in)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. (PMID 12821740)
- Cited in: Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A… (PMID 17054684)