E14* (p.Glu14Ter) variant of TNNT2 (Troponin T, cardiac muscle)
E14* (p.Glu14Ter) in TNNT2 (Troponin T, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- rs772890125
- ClinGen CA344208869
- ClinVar RCV002584082
- ExAC rs772890125
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)