E76* (p.Glu76Ter) variant of TNNC1 (P63316)
E76* (p.Glu76Ter) in TNNC1 (P63316) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E76* (p.Glu76Ter) variant details
- p.Glu76Ter
- rs759523214
- gnomAD 19-55156233-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available