E44* (p.Glu44Ter) variant of ATP7A (Copper-transporting ATPase 1)
E44* (p.Glu44Ter) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating 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.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- gnomAD X-77975514-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0925
- CADD 1.68
- Population evidence available
- Structural context available
- Literature evidence available