Y1781H (p.Tyr1781His) variant of SCN1A (Nav1.1)
Y1781H (p.Tyr1781His) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; Migraine, familial hemiplegic, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Y1781H (p.Tyr1781His) variant details
- p.Tyr1781His
- rs1689242255
- ClinGen CA349068092
- ClinVar RCV001195896
- ClinVar RCV006465724
- Uncertain significance
- Early-infantile DEE; Migraine, familial hemiplegic, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 2)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)