P71H (p.Pro71His) variant of SCN4A (Nav1.4)
P71H (p.Pro71His) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P71H (p.Pro71His) variant details
- p.Pro71His
- ExAC rs781057451
- gnomAD rs781057451
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.60
- CADD 24.10
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available