C728R (p.Cys728Arg) variant of SCN2A (Nav1.2)
C728R (p.Cys728Arg) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Self-limited epilepsy with centrotemporal spikes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
C728R (p.Cys728Arg) variant details
- p.Cys728Arg
- rs1553574522
- ClinGen CA349030572
- ClinVar RCV000655980
- Ensembl rs1553574522
- Pathogenic
- Self-limited epilepsy with centrotemporal spikes
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- ESM-1b 1.00
- AlphaMissense 0.56
- ClinVar: Pathogenic (Self-limited epilepsy with centrotemporal spikes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available