Y52* (p.Tyr52Ter) variant of ATP7A (Copper-transporting ATPase 1)
Y52* (p.Tyr52Ter) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Y52* (p.Tyr52Ter) variant details
- p.Tyr52Ter
- gnomAD X-77971770-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available