P281R (p.Pro281Arg) variant of SCN1A (Nav1.1)
P281R (p.Pro281Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
P281R (p.Pro281Arg) variant details
- p.Pro281Arg
- rs796052964
- ClinGen CA349073009
- ClinVar RCV000995860
- Ensembl rs796052964
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.39
- MetaLR 0.84
- MetaSVM 0.54
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.26
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 2)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)