W1284R (p.Trp1284Arg) variant of SCN1A (Nav1.1)
W1284R (p.Trp1284Arg) 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 not provided; Generalized epilepsy with febrile seizures plus, type 2; Severe my. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
W1284R (p.Trp1284Arg) variant details
- p.Trp1284Arg
- rs796053001
- ClinGen CA317404
- ClinVar RCV000188932
- ClinVar RCV001375621
- Pathogenic/Likely pathogenic
- not provided; Generalized epilepsy with febrile seizures plus, type 2; Severe my
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Generalized epilepsy with febrile seizures plus, t)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Population evidence available
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)