C38G (p.Cys38Gly) variant of COL4A5 (Collagen alpha-5(IV) chain)
C38G (p.Cys38Gly) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C38G (p.Cys38Gly) variant details
- p.Cys38Gly
- gnomAD X-108539776-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.71
- CADD 25.70
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Literature evidence available