L61F (p.Leu61Phe) variant of SCN1A (P35498)
L61F (p.Leu61Phe) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
L61F (p.Leu61Phe) variant details
- p.Leu61Phe
- rs2105982797
- ClinGen CA349242906
- ClinVar RCV006468595
- Ensembl rs2105982797
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.90
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Early-infantile DEE)
- 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: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)