G49D (p.Gly49Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G49D (p.Gly49Asp) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- gnomAD 2-227010341-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0519
- CADD 1.43
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available