S42* (p.Ser42Ter) variant of ATP7A (Copper-transporting ATPase 1)
S42* (p.Ser42Ter) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S42* (p.Ser42Ter) variant details
- p.Ser42Ter
- gnomAD X-77988246-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available