R101Q (p.Arg101Gln) variant of SCN1A (P35498)
R101Q (p.Arg101Gln) 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; Severe myoclonic epilepsy in infancy; Generalized epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R101Q (p.Arg101Gln) variant details
- p.Arg101Gln
- rs121917918
- ClinGen CA273119
- cosmic curated COSV10032
- ClinVar RCV000059400
- Pathogenic
- Early-infantile DEE; Severe myoclonic epilepsy in infancy; Generalized epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Early-infantile DEE; Severe myoclonic epilepsy in infancy; Gener)
- EBI: Pathogenic (in DRVT and ICEGTC)
- UniProt: Pathogenic (in DRVT and ICEGTC)
- Structural context available
- Cited in: Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy… (PMID 14738421)
- Cited in: Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. (PMID 17561957)