R1629C (p.Arg1629Cys) variant of SCN2A (Nav1.2)
R1629C (p.Arg1629Cys) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R1629C (p.Arg1629Cys) variant details
- p.Arg1629Cys
- rs1702003567
- ClinGen CA349037704
- NCI-TCGA Cosmic COSV5184
- cosmic curated COSV51843
- Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)