Q1923H (p.Gln1923His) variant of SCN1A (Nav1.1)
Q1923H (p.Gln1923His) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.89 / 1. The record also includes published literature and structural context.
Q1923H (p.Gln1923His) variant details
- p.Gln1923His
- rs2105423415
- ClinGen CA349064029
- ClinVar RCV002246355
- ClinVar RCV006466819
- Pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)