G210D (p.Gly210Asp) variant of SCN1A (Nav1.1)
G210D (p.Gly210Asp) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; Severe myoclonic epilep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G210D (p.Gly210Asp) variant details
- p.Gly210Asp
- rs1698747852
- ClinGen CA349074304
- cosmic curated COSV57666
- ClinVar RCV001262229
- Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Severe myoclonic epilep
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 16.60
- ClinVar: Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Severe)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)