G42G (p.Gly42Gly) variant of COL4A5 (Collagen alpha-5(IV) chain)
G42G (p.Gly42Gly) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G42G (p.Gly42Gly) variant details
- p.Gly42Gly
- rs2065509617
- gnomAD X-108539790-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 6.75
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available