Y87* (p.Tyr87Ter) variant of SCN4A (Nav1.4)
Y87* (p.Tyr87Ter) in SCN4A (Nav1.4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y87* (p.Tyr87Ter) variant details
- p.Tyr87Ter
- gnomAD rs1454207683
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 37.00
- Population evidence available
- Structural context available