T66M (p.Thr66Met) variant of TTN (Titin)
T66M (p.Thr66Met) 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.
T66M (p.Thr66Met) variant details
- p.Thr66Met
- rs372755739
- ClinGen CA2006395
- cosmic curated COSV60099
- ClinVar RCV000613481
- Likely benign
- Missense
- CADD 1.77
- PolyPhen-2 0.00
- 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)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)