Y84C (p.Tyr84Cys) variant of SCN1A (P35498)
Y84C (p.Tyr84Cys) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; Migraine, familial hemi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Y84C (p.Tyr84Cys) variant details
- p.Tyr84Cys
- rs121917964
- ClinGen CA284901
- ClinVar RCV000059392
- ClinVar RCV000255485
- Pathogenic/Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Migraine, familial hemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Migrain)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: The spectrum of SCN1A-related infantile epileptic encephalopathies. (PMID 17347258)
- Cited in: De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. (PMID 19589774)