W937C (p.Trp937Cys) variant of SCN8A (Nav1.6)
W937C (p.Trp937Cys) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebellar ataxia; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
W937C (p.Trp937Cys) variant details
- p.Trp937Cys
- rs1555225835
- ClinGen CA384889155
- ClinVar RCV000851503
- Ensembl rs1555225835
- Likely pathogenic
- Cerebellar ataxia; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Cerebellar ataxia; Intellectual disability)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)