S845F (p.Ser845Phe) variant of SCN8A (Nav1.6)
S845F (p.Ser845Phe) 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 0.99 / 1. The record also includes published literature and structural context.
S845F (p.Ser845Phe) variant details
- p.Ser845Phe
- rs796053210
- ClinGen CA318256
- ClinVar RCV000189266
- ClinVar RCV002517014
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)