S49P (p.Ser49Pro) variant of TTN (Titin)
S49P (p.Ser49Pro) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- 1000Genomes rs531066665
- ExAC rs531066665
- TOPMed rs531066665
- gnomAD rs531066665
- Missense
- CADD 23.60
- PolyPhen-2 0.09
- Population evidence available