V54M (p.Val54Met) variant of TTN (Titin)
V54M (p.Val54Met) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMD1G. The record also includes variant effect predictions, population frequency data, and published literature.
V54M (p.Val54Met) variant details
- p.Val54Met
- rs139517732
- ClinGen CA256511
- ClinVar RCV000013492
- ClinVar RCV001213576
- Pathogenic
- in CMD1G
- Missense
- CADD 22.80
- PolyPhen-2 0.10
- EBI: Pathogenic (in CMD1G)
- UniProt: Pathogenic (in CMD1G)
- Population evidence available
- Cited in: Titin mutations as the molecular basis for dilated cardiomyopathy. (PMID 11846417)
- Cited in: Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. (PMID 11788824)