E6K (p.Glu6Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E6K (p.Glu6Lys) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs2102316961
- ClinGen CA344209055
- ClinVar RCV001524131
- Ensembl rs2102316961
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 0.37
- MetaLR 0.92
- MetaSVM 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)