p.Glu56 Asp69del variant of TPM1 (Tropomyosin alpha-1 chain)
p.Glu56 Asp69del in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu56 Asp69del variant details
- rs768145451
- gnomAD 15-63043748-TCGGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 21.30
- Population evidence available
- Structural context available
- Literature evidence available