Q9Q (p.Gln9Gln) variant of TPM1 (Tropomyosin alpha-1 chain)
Q9Q (p.Gln9Gln) in TPM1 (Tropomyosin alpha-1 chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q9Q (p.Gln9Gln) variant details
- p.Gln9Gln
- rs397516365
- gnomAD 15-63042856-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 14.80
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)