R1861W (p.Arg1861Trp) variant of SCN1A (Nav1.1)
R1861W (p.Arg1861Trp) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R1861W (p.Arg1861Trp) variant details
- p.Arg1861Trp
- rs760906812
- ClinGen CA349065361
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Pathogenic/Likely pathogenic
- Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe myoclonic epilepsy in infancy; Generalized epilepsy with)
- EBI: Pathogenic (in ICEGTC)
- UniProt: Pathogenic (in ICEGTC)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. (PMID 23195492)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)