R219G (p.Arg219Gly) variant of SCN1A (Nav1.1)
R219G (p.Arg219Gly) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Genetic developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R219G (p.Arg219Gly) variant details
- p.Arg219Gly
- rs1553550574
- ClinGen CA349074181
- ClinVar RCV001311223
- ClinVar RCV006466255
- Likely pathogenic
- Genetic developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 21.80
- ClinVar: Likely pathogenic (Genetic developmental and epileptic encephalopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available