I240T (p.Ile240Thr) variant of SCN8A (Nav1.6)
I240T (p.Ile240Thr) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 13; Fetal akinesia deformation seque. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
I240T (p.Ile240Thr) variant details
- p.Ile240Thr
- rs1592387849
- ClinGen CA385226373
- ClinVar RCV000855503
- ClinVar RCV001775152
- Likely pathogenic
- Developmental and epileptic encephalopathy, 13; Fetal akinesia deformation seque
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 13; Fetal akinesia d)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)