D936Y (p.Asp936Tyr) variant of SCN1A (Nav1.1)
D936Y (p.Asp936Tyr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D936Y (p.Asp936Tyr) variant details
- p.Asp936Tyr
- rs796052988
- ClinGen CA317323
- ClinVar RCV000188900
- ClinVar RCV002247607
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.89
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 2; not pro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)