A24T (p.Ala24Thr) variant of SCN1A (P35498)
A24T (p.Ala24Thr) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- rs794726848
- ClinGen CA303581
- ClinVar RCV000180979
- Ensembl rs794726848
- Pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.70
- PolyPhen-2 0.41
- SIFT 0.04
- EVE 0.29
- ClinVar: Pathogenic (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)