A16D (p.Ala16Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
A16D (p.Ala16Asp) 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.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD X-108440172-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.53
- MetaLR 0.66
- MetaSVM 0.58
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available