E54G (p.Glu54Gly) variant of TPM1 (Tropomyosin alpha-1 chain)
E54G (p.Glu54Gly) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E54G (p.Glu54Gly) variant details
- p.Glu54Gly
- gnomAD 15-63043752-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available