E44D (p.Glu44Asp) variant of ATP7A (Copper-transporting ATPase 1)
E44D (p.Glu44Asp) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- gnomAD X-77975516-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.64
- Population evidence available
- Structural context available
- Literature evidence available