E54* (p.Glu54Ter) variant of TPM1 (Tropomyosin alpha-1 chain)
E54* (p.Glu54Ter) in TPM1 (Tropomyosin alpha-1 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- gnomAD 15-63043751-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available