I91T (p.Ile91Thr) variant of SCN1A (P35498)
I91T (p.Ile91Thr) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2; Se. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
I91T (p.Ile91Thr) variant details
- p.Ile91Thr
- rs121918734
- ClinGen CA285081
- ClinVar RCV000059474
- ClinVar RCV003157390
- Pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2; Se
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 0.81
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic (Early-infantile DEE; Generalized epilepsy with febrile seizures)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (PMID 20431604)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)