R862L (p.Arg862Leu) variant of SCN1A (Nav1.1)
R862L (p.Arg862Leu) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R862L (p.Arg862Leu) variant details
- p.Arg862Leu
- rs121918785
- ClinGen CA349062315
- ClinVar RCV001092113
- ClinVar RCV002249679
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Generalized epilepsy with feb)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)