E40D (p.Glu40Asp) variant of TPM1 (Tropomyosin alpha-1 chain)
E40D (p.Glu40Asp) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- gnomAD 15-63043711-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available