V409A (p.Val409Ala) variant of SCN8A (Nav1.6)
V409A (p.Val409Ala) 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 Early-infantile DEE; Cognitive impairment with or without cerebellar ataxia; Dev. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
V409A (p.Val409Ala) variant details
- p.Val409Ala
- rs2138748239
- ClinGen CA385227978
- ClinVar RCV001924977
- ClinVar RCV002246576
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Cognitive impairment with or without cerebellar ataxia; Dev
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Cognitive impairment with or without cerebe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)