E117* (p.Glu117Ter) variant of TNNT2 (Troponin T, cardiac muscle)
E117* (p.Glu117Ter) 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 0.78 / 1.
E117* (p.Glu117Ter) variant details
- p.Glu117Ter
- rs730881099
- ClinGen CA004369
- cosmic curated COSV52660
- ClinVar RCV000159287
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.43
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance