G75D (p.Gly75Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G75D (p.Gly75Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G75D (p.Gly75Asp) variant details
- p.Gly75Asp
- gnomAD X-108559142-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available