S49Y (p.Ser49Tyr) variant of TTN (Titin)
S49Y (p.Ser49Tyr) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
S49Y (p.Ser49Tyr) variant details
- p.Ser49Tyr
- ESP rs368887734
- ExAC rs368887734
- TOPMed rs368887734
- gnomAD rs368887734
- Missense
- CADD 26.90
- PolyPhen-2 0.45
- Population evidence available