A239T (p.Ala239Thr) variant of SCN1A (Nav1.1)
A239T (p.Ala239Thr) 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; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
A239T (p.Ala239Thr) variant details
- p.Ala239Thr
- rs121917985
- ClinGen CA285048
- ClinVar RCV000059456
- ClinVar RCV006555404
- Pathogenic
- Early-infantile DEE; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Early-infantile DEE; Severe myoclonic epilepsy in infancy)
- 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: Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (PMID 20431604)