I240V (p.Ile240Val) variant of SCN8A (Nav1.6)
I240V (p.Ile240Val) 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 not provided; Early-infantile DEE; Cognitive impairment with or without cerebell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
I240V (p.Ile240Val) variant details
- p.Ile240Val
- rs1064793923
- ClinGen CA16619557
- ClinVar RCV000482488
- ClinVar RCV001330496
- Pathogenic/Likely pathogenic
- not provided; Early-infantile DEE; Cognitive impairment with or without cerebell
- 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: Pathogenic/Likely pathogenic (not provided; Early-infantile DEE; Cognitive impairment with or)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)