A104D (p.Ala104Asp) variant of SCN1A (P35498)
A104D (p.Ala104Asp) 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; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
A104D (p.Ala104Asp) variant details
- p.Ala104Asp
- rs1553553527
- ClinGen CA349077094
- ClinVar RCV002283507
- ClinVar RCV006607697
- Pathogenic
- Early-infantile DEE; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.92
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Early-infantile DEE; 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)