E33* (p.Glu33Ter) variant of TNNI1 (Troponin I, slow skeletal muscle)
E33* (p.Glu33Ter) in TNNI1 (Troponin I, slow skeletal muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- 1000Genomes rs373597502
- ESP rs373597502
- ExAC rs373597502
- TOPMed rs373597502
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 39.00
- Population evidence available
- Structural context available