I240F (p.Ile240Phe) variant of SCN8A (Nav1.6)
I240F (p.Ile240Phe) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cognitive impairment with or without cerebellar ataxia; Developmental and epilep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
I240F (p.Ile240Phe) variant details
- p.Ile240Phe
- rs1064793923
- ClinGen CA385226371
- ClinVar RCV001706842
- ClinVar RCV001706843
- Likely pathogenic
- Cognitive impairment with or without cerebellar ataxia; Developmental and epilep
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 0.31
- SIFT 0.04
- ClinVar: Likely pathogenic (Cognitive impairment with or without cerebellar ataxia; Developm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)