E56K (p.Glu56Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
E56K (p.Glu56Lys) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- gnomAD 15-63043757-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available