D39E (p.Asp39Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
D39E (p.Asp39Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D39E (p.Asp39Glu) variant details
- p.Asp39Glu
- gnomAD X-108539781-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.34
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available