E54V (p.Glu54Val) variant of TPM1 (Tropomyosin alpha-1 chain)
E54V (p.Glu54Val) 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.
E54V (p.Glu54Val) variant details
- p.Glu54Val
- rs730881132
- gnomAD 15-63043752-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 22.30
- Most common in the REMAINING population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available