T1482N (p.Thr1482Asn) variant of SCN8A (Nav1.6)
T1482N (p.Thr1482Asn) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Undetermined early-onset epileptic encephalopathy; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
T1482N (p.Thr1482Asn) variant details
- p.Thr1482Asn
- rs2540308991
- ClinGen CA384909055
- ClinVar RCV003754740
- ClinVar RCV004799688
- Pathogenic/Likely pathogenic
- Undetermined early-onset epileptic encephalopathy; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Pathogenic/Likely pathogenic (Undetermined early-onset epileptic encephalopathy; Early-infanti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available