Q25Q (p.Gln25Gln) variant of COL3A1 (Collagen alpha-1(III) chain)
Q25Q (p.Gln25Gln) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q25Q (p.Gln25Gln) variant details
- p.Gln25Gln
- gnomAD 2-188974564-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 12.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available