R55* (p.Arg55Ter) variant of SCN4A (Nav1.4)
R55* (p.Arg55Ter) in SCN4A (Nav1.4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R55* (p.Arg55Ter) variant details
- p.Arg55Ter
- ExAC rs754070476
- TOPMed rs754070476
- gnomAD rs754070476
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 37.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available