E57* (p.Glu57Ter) variant of TNNT2 (Troponin T, cardiac muscle)
E57* (p.Glu57Ter) in TNNT2 (Troponin T, cardiac muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- gnomAD rs1168435601
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)