H38P (p.His38Pro) variant of ATP7A (Copper-transporting ATPase 1)
H38P (p.His38Pro) 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.
H38P (p.His38Pro) variant details
- p.His38Pro
- rs1603379393
- gnomAD X-77975521-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0936
- CADD 2.02
- Population evidence available
- Structural context available
- Literature evidence available