Q44R (p.Gln44Arg) variant of TTN (Titin)
Q44R (p.Gln44Arg) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- TOPMed rs867308852
- gnomAD rs867308852
- Likely benign
- Missense
- CADD 24.80
- PolyPhen-2 0.98
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available