Q38R (p.Gln38Arg) variant of TPM1 (Tropomyosin alpha-1 chain)
Q38R (p.Gln38Arg) in TPM1 (Tropomyosin alpha-1 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q38R (p.Gln38Arg) variant details
- p.Gln38Arg
- gnomAD 15-63042941-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available