C22* (p.Cys22Ter) variant of ATP7A (Copper-transporting ATPase 1)
C22* (p.Cys22Ter) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
C22* (p.Cys22Ter) variant details
- p.Cys22Ter
- gnomAD X-77971794-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.80
- Population evidence available
- Structural context available
- Literature evidence available