D55E (p.Asp55Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
D55E (p.Asp55Glu) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D55E (p.Asp55Glu) variant details
- p.Asp55Glu
- gnomAD 15-63043756-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 20.70
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available