E56D (p.Glu56Asp) variant of TPM1 (Tropomyosin alpha-1 chain)
E56D (p.Glu56Asp) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- gnomAD 15-63043759-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available