I1762L (p.Ile1762Leu) variant of SCN8A (Nav1.6)
I1762L (p.Ile1762Leu) 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 Cognitive impairment with or without cerebellar ataxia; Developmental and epilep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
I1762L (p.Ile1762Leu) variant details
- p.Ile1762Leu
- rs2138943320
- ClinGen CA384885184
- ClinVar RCV003223477
- ClinVar RCV005254751
- Pathogenic/Likely pathogenic
- Cognitive impairment with or without cerebellar ataxia; Developmental and epilep
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cognitive impairment with or without cerebellar ataxia; Developm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)