F63L (p.Phe63Leu) variant of SCN1A (P35498)
F63L (p.Phe63Leu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F63L (p.Phe63Leu) variant details
- p.Phe63Leu
- rs121917907
- ClinGen CA284883
- ClinVar RCV000059385
- ClinVar RCV006555395
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.44
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance (in DRVT)
- UniProt: Uncertain significance (in DRVT)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus… (PMID 20729507)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)