H38N (p.His38Asn) variant of ATP7A (Copper-transporting ATPase 1)
H38N (p.His38Asn) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H38N (p.His38Asn) variant details
- p.His38Asn
- gnomAD X-77975520-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 1.72
- Population evidence available
- Structural context available
- Literature evidence available