C927R (p.Cys927Arg) variant of SCN1A (Nav1.1)
C927R (p.Cys927Arg) 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 Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
C927R (p.Cys927Arg) variant details
- p.Cys927Arg
- rs2105807206
- ClinGen CA349061389
- ClinVar RCV002250316
- ClinVar RCV006558676
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.82
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Generalized epilepsy with febrile seizures)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)