G48G (p.Gly48Gly) variant of COL4A5 (Collagen alpha-5(IV) chain)
G48G (p.Gly48Gly) in COL4A5 (Collagen alpha-5(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G48G (p.Gly48Gly) variant details
- p.Gly48Gly
- rs749839339
- gnomAD X-108559066-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 16.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available