A28D (p.Ala28Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
A28D (p.Ala28Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD X-108539747-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.45
- MetaLR 0.40
- MetaSVM -0.26
- CADD 17.30
- PolyPhen-2 0.39
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available