H38D (p.His38Asp) variant of ATP7A (Copper-transporting ATPase 1)
H38D (p.His38Asp) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H38D (p.His38Asp) variant details
- p.His38Asp
- gnomAD X-77975553-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0868
- CADD 0.87
- Population evidence available
- Structural context available
- Literature evidence available