P281S (p.Pro281Ser) variant of SCN1A (Nav1.1)
P281S (p.Pro281Ser) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
P281S (p.Pro281Ser) variant details
- p.Pro281Ser
- rs1553549660
- ClinGen CA349073014
- ClinVar RCV001253537
- ClinVar RCV006466137
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.53
- MetaLR 0.82
- MetaSVM 0.50
- PolyPhen-2 0.03
- SIFT 0.00
- EVE 0.26
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Early-i)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)