H38R (p.His38Arg) variant of ATP7A (Copper-transporting ATPase 1)
H38R (p.His38Arg) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H38R (p.His38Arg) variant details
- p.His38Arg
- gnomAD X-77971796-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.79
- Population evidence available
- Structural context available
- Literature evidence available