C1275R (p.Cys1275Arg) variant of SCN2A (Nav1.2)
C1275R (p.Cys1275Arg) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Developmental and epileptic encephalopathy, 11; Seizures, benign f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C1275R (p.Cys1275Arg) variant details
- p.Cys1275Arg
- rs2105365343
- ClinGen CA349028388
- ClinVar RCV002016420
- ClinVar RCV004763312
- Pathogenic/Likely pathogenic
- not provided; Developmental and epileptic encephalopathy, 11; Seizures, benign f
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Developmental and epileptic encephalopathy, 11; Se)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)