E42D (p.Glu42Asp) variant of TPM1 (Tropomyosin alpha-1 chain)
E42D (p.Glu42Asp) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- rs1042261478
- gnomAD 15-63043732-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 22.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available