V233I (p.Val233Ile) variant of SCN8A (Nav1.6)
V233I (p.Val233Ile) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial infantile, 5; Cognitive impairment with or without cer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
V233I (p.Val233Ile) variant details
- p.Val233Ile
- rs1592380699
- ClinGen CA385224126
- ClinVar RCV000850511
- Ensembl rs1592380699
- Likely pathogenic
- Seizures, benign familial infantile, 5; Cognitive impairment with or without cer
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.95
- MetaSVM 1.03
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizures, benign familial infantile, 5; Cognitive impairment wit)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)