Q6Q (p.Gln6Gln) variant of COL3A1 (Collagen alpha-1(III) chain)
Q6Q (p.Gln6Gln) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q6Q (p.Gln6Gln) variant details
- p.Gln6Gln
- rs892404442
- gnomAD 2-188974507-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 13.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available