A1783T (p.Ala1783Thr) variant of SCN1A (Nav1.1)
A1783T (p.Ala1783Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generali. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
A1783T (p.Ala1783Thr) variant details
- p.Ala1783Thr
- rs121917980
- ClinGen CA285021
- ClinVar RCV000059445
- ClinVar RCV000188999
- Pathogenic
- Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generali
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in i)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)
- Cited in: De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. (PMID 19589774)