D70Y (p.Asp70Tyr) variant of SCN4A (Nav1.4)
D70Y (p.Asp70Tyr) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D70Y (p.Asp70Tyr) variant details
- p.Asp70Tyr
- Ensembl rs866082303
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.82
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available