I1464T (p.Ile1464Thr) variant of SCN8A (Nav1.6)
I1464T (p.Ile1464Thr) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE; not provided; Cognitive impairment with or without cerebell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
I1464T (p.Ile1464Thr) variant details
- p.Ile1464Thr
- rs2138909658
- ClinGen CA384908556
- ClinVar RCV001706935
- ClinVar RCV001868400
- Likely pathogenic
- Early-infantile DEE; not provided; Cognitive impairment with or without cerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Early-infantile DEE; not provided; Cognitive impairment with or)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)