Q44L (p.Gln44Leu) variant of TTN (Titin)
Q44L (p.Gln44Leu) 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, population frequency data, and published literature.
Q44L (p.Gln44Leu) variant details
- p.Gln44Leu
- rs867308852
- ClinGen CA349531409
- ClinVar RCV000852947
- TOPMed rs867308852
- Likely benign
- Missense
- CADD 25.20
- PolyPhen-2 0.97
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)