K46* (p.Lys46Ter) variant of TNNI3 (Troponin I, cardiac muscle)
K46* (p.Lys46Ter) in TNNI3 (Troponin I, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
K46* (p.Lys46Ter) variant details
- p.Lys46Ter
- rs2085732554
- ClinGen CA407442383
- ClinVar RCV001189336
- Ensembl rs2085732554
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)