S845C (p.Ser845Cys) variant of SCN8A (Nav1.6)
S845C (p.Ser845Cys) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
S845C (p.Ser845Cys) variant details
- p.Ser845Cys
- rs796053210
- ClinGen CA384884778
- ClinVar RCV003754291
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available