E19D (p.Glu19Asp) variant of TTN (Titin)
E19D (p.Glu19Asp) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- ExAC rs781416228
- gnomAD rs781416228
- Missense
- CADD 24.70
- PolyPhen-2 0.94
- Population evidence available