T48I (p.Thr48Ile) variant of TTN (Titin)
T48I (p.Thr48Ile) in TTN (Titin) is a missense change. The record also includes variant effect predictions and population frequency data.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- TOPMed rs1295047971
- gnomAD rs1295047971
- Missense
- CADD 23.70
- PolyPhen-2 0.02
- Population evidence available