N47M (p.Asn47Met) variant of ATP7A (Copper-transporting ATPase 1)
N47M (p.Asn47Met) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
N47M (p.Asn47Met) variant details
- p.Asn47Met
- rs2149082525
- gnomAD X-77988254-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available