E66* (p.Glu66Ter) variant of TNNC1 (P63316)
E66* (p.Glu66Ter) in TNNC1 (P63316) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E66* (p.Glu66Ter) variant details
- p.Glu66Ter
- gnomAD 19-55156284-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.879
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available