E55* (p.Glu55Ter) variant of TNNT2 (Troponin T, cardiac muscle)
E55* (p.Glu55Ter) in TNNT2 (Troponin T, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
E55* (p.Glu55Ter) variant details
- p.Glu55Ter
- rs730881120
- ClinGen CA344207177
- ClinVar RCV000646058
- ClinVar RCV001524941
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 0.07
- MetaLR 0.91
- MetaSVM 0.98
- CADD 48.00
- SIFT 0.04
- MutPred 0.09
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)