G5G (p.Gly5Gly) variant of COL4A5 (Collagen alpha-5(IV) chain)
G5G (p.Gly5Gly) in COL4A5 (Collagen alpha-5(IV) 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.
G5G (p.Gly5Gly) variant details
- p.Gly5Gly
- gnomAD X-108440140-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 15.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available