Q38Q (p.Gln38Gln) variant of TPM1 (Tropomyosin alpha-1 chain)
Q38Q (p.Gln38Gln) in TPM1 (Tropomyosin alpha-1 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Q38Q (p.Gln38Gln) variant details
- p.Gln38Gln
- rs2031445986
- gnomAD 15-63042943-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.796
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available