Q9A (p.Gln9Ala) variant of TPM1 (Tropomyosin alpha-1 chain)
Q9A (p.Gln9Ala) in TPM1 (Tropomyosin alpha-1 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q9A (p.Gln9Ala) variant details
- p.Gln9Ala
- gnomAD 15-63042852-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 33.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available