A26D (p.Ala26Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
A26D (p.Ala26Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A26D (p.Ala26Asp) variant details
- p.Ala26Asp
- gnomAD X-108440202-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.45
- MetaLR 0.65
- MetaSVM 0.17
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available