W1434R (p.Trp1434Arg) variant of SCN1A (Nav1.1)
W1434R (p.Trp1434Arg) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.93 / 1. The record also includes published literature and structural context.
W1434R (p.Trp1434Arg) variant details
- p.Trp1434Arg
- rs121918789
- ClinGen CA349049615
- ClinVar RCV001328668
- ClinVar RCV001507578
- Conflicting interpretations
- Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Conflicting classifications of pathogenicity (not provided; Migraine, familial hemiplegic, 3)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. (PMID 12083760)
- Cited in: De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. (PMID 12754708)