N115K (p.Asn115Lys) variant of SCN1A (Nav1.1)
N115K (p.Asn115Lys) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe myoclonic epilepsy in infancy; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
N115K (p.Asn115Lys) variant details
- p.Asn115Lys
- rs61741123
- ClinGen CA349076939
- ClinVar RCV001249174
- ClinVar RCV002508953
- Pathogenic
- Severe myoclonic epilepsy in infancy; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- AlphaMissense 0.95
- MetaLR 0.91
- MetaSVM 0.85
- PolyPhen-2 0.60
- SIFT 0.00
- EVE 0.44
- ClinVar: Pathogenic (Severe myoclonic epilepsy in infancy; Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)