A1669T (p.Ala1669Thr) variant of SCN1A (Nav1.1)
A1669T (p.Ala1669Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy 6B; Generalized epilepsy with febrile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
A1669T (p.Ala1669Thr) variant details
- p.Ala1669Thr
- rs2105433731
- ClinGen CA349069759
- ClinVar RCV002250308
- ClinVar RCV006449284
- Pathogenic
- Developmental and epileptic encephalopathy 6B; Generalized epilepsy with febrile
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy 6B; Generalized epile)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)