F90S (p.Phe90Ser) variant of SCN1A (P35498)
F90S (p.Phe90Ser) in SCN1A (P35498) 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; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
F90S (p.Phe90Ser) variant details
- p.Phe90Ser
- rs121918733
- ClinGen CA285078
- cosmic curated COSV10961
- ClinVar RCV000059473
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Severe myoclonic epilepsy in)
- EBI: Pathogenic (in DRVT and ICEGTC)
- UniProt: Pathogenic (in DRVT and ICEGTC)
- Structural context available
- Cited in: Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. (PMID 20431604)
- Cited in: Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. (PMID 23195492)