R101W (p.Arg101Trp) variant of SCN1A (P35498)
R101W (p.Arg101Trp) 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; Migraine, familial hemiplegic, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
R101W (p.Arg101Trp) variant details
- p.Arg101Trp
- rs121917965
- ClinGen CA284919
- ClinVar RCV000059399
- ClinVar RCV000357692
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Migraine, familial hemiplegic, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Migraine, familial hemiplegic)
- 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: Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (PMID 18930999)