Q22Q (p.Gln22Gln) variant of COL4A5 (Collagen alpha-5(IV) chain)
Q22Q (p.Gln22Gln) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q22Q (p.Gln22Gln) variant details
- p.Gln22Gln
- rs1226348837
- gnomAD X-108440191-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 13.50
- Most common in the Ashkenazi Jewish population (allele frequency 0.00077)
- Structural context available
- Literature evidence available