T7K (p.Thr7Lys) variant of TTN (Titin)
T7K (p.Thr7Lys) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- ExAC rs761344572
- TOPMed rs761344572
- gnomAD rs761344572
- Uncertain significance
- Missense
- CADD 23.40
- PolyPhen-2 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available