S579R (p.Ser579Arg) variant of SCN2A (Nav1.2)
S579R (p.Ser579Arg) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign familial infantile epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
S579R (p.Ser579Arg) variant details
- p.Ser579Arg
- rs2105276771
- ClinGen CA349026540
- ClinVar RCV001847372
- Ensembl rs2105276771
- Pathogenic
- Benign familial infantile epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: Pathogenic (Benign familial infantile epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available