E42* (p.Glu42Ter) variant of TPM1 (Tropomyosin alpha-1 chain)
E42* (p.Glu42Ter) 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.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- gnomAD 15-63043730-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available