F945L (p.Phe945Leu) variant of SCN1A (Nav1.1)
F945L (p.Phe945Leu) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.93 / 1. The record also includes published literature and structural context.
F945L (p.Phe945Leu) variant details
- p.Phe945Leu
- rs1696628056
- rs121917970
- NCI-TCGA TCGA novel
- ClinGen CA349061248
- Pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Early-infantile DEE; Generalized epilepsy with febrile seizures)
- 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)