M139I (p.Met139Ile) variant of SCN8A (Nav1.6)
M139I (p.Met139Ile) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cognitive impairment with or without cerebellar ataxia; Early-infa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
M139I (p.Met139Ile) variant details
- p.Met139Ile
- rs1565886685
- ClinGen CA385221602
- ClinVar RCV003992832
- ClinGen CA385221600
- Pathogenic
- not provided; Cognitive impairment with or without cerebellar ataxia; Early-infa
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.84
- PolyPhen-2 0.49
- SIFT 0.07
- ClinVar: Pathogenic (not provided; Cognitive impairment with or without cerebellar at)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)