I1545V (p.Ile1545Val) variant of SCN1A (Nav1.1)
I1545V (p.Ile1545Val) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; Migraine, familial hemi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
I1545V (p.Ile1545Val) variant details
- p.Ile1545Val
- rs121917975
- ClinGen CA284976
- ClinVar RCV000059425
- ClinVar RCV001249684
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Migraine, familial hemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.24
- MetaLR 0.88
- MetaSVM 0.89
- PolyPhen-2 0.60
- SIFT 0.16
- EVE 0.20
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Migrain)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: The spectrum of SCN1A-related infantile epileptic encephalopathies. (PMID 17347258)
- Cited in: De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. (PMID 19589774)