D79N (p.Asp79Asn) variant of SCN1A (P35498)
D79N (p.Asp79Asn) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D79N (p.Asp79Asn) variant details
- p.Asp79Asn
- rs121917982
- ClinGen CA16604053
- ClinVar RCV000419539
- UniProt VAR 073446
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)