Y790F (p.Tyr790Phe) variant of SCN1A (Nav1.1)
Y790F (p.Tyr790Phe) 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; not provided; Generalized epilepsy with febrile seizures pl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y790F (p.Tyr790Phe) variant details
- p.Tyr790Phe
- rs121918782
- ClinGen CA1943130
- ClinVar RCV005630896
- ClinVar RCV005860199
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 0.23
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Generalized epilepsy with feb)
- EBI: Pathogenic (found in patients with Panayiotopoulos syndrome)
- UniProt: Pathogenic (found in patients with Panayiotopoulos syndrome)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: SCN1A mutation associated with atypical Panayiotopoulos syndrome. (PMID 17679682)
- Cited in: Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. (PMID 19522081)