H127Y (p.His127Tyr) variant of SCN1A (Nav1.1)
H127Y (p.His127Tyr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H127Y (p.His127Tyr) variant details
- p.His127Tyr
- rs148442069
- ClinGen CA349076760
- ClinVar RCV002249425
- ClinVar RCV006464017
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.80
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Generalized epilepsy with febrile seizures)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Population evidence available
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)