Y87H (p.Tyr87His) variant of SCN4A (Nav1.4)
Y87H (p.Tyr87His) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Y87H (p.Tyr87His) variant details
- p.Tyr87His
- ExAC rs761254432
- gnomAD rs761254432
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.88
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available