M1869T (p.Met1869Thr) variant of SCN8A (Nav1.6)
M1869T (p.Met1869Thr) 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 0.87 / 1. The record also includes published literature and structural context.
M1869T (p.Met1869Thr) variant details
- p.Met1869Thr
- rs1064794727
- ClinGen CA16619566
- ClinVar RCV000481897
- ClinVar RCV000762898
- Pathogenic/Likely pathogenic
- not provided; Early-infantile DEE; Cognitive impairment with or without cerebell
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- 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)