I56L (p.Ile56Leu) variant of TTN (Titin)
I56L (p.Ile56Leu) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
I56L (p.Ile56Leu) variant details
- p.Ile56Leu
- TOPMed rs2094107740
- gnomAD rs2094107740
- Missense
- CADD 23.30
- Population evidence available