Q38Q (p.Gln38Gln) variant of COL4A3 (Collagen alpha-3(IV) chain)
Q38Q (p.Gln38Gln) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q38Q (p.Gln38Gln) variant details
- p.Gln38Gln
- gnomAD 2-227237994-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 7.69
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available