R865Q (p.Arg865Gln) variant of SCN1A (Nav1.1)
R865Q (p.Arg865Gln) in SCN1A (Nav1.1) 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; 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.
R865Q (p.Arg865Gln) variant details
- p.Arg865Gln
- rs1057517862
- ClinGen CA16042360
- cosmic curated COSV10646
- ClinVar RCV000413258
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Generalized epilepsy with feb)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)