L43* (p.Leu43Ter) variant of ATP7A (Copper-transporting ATPase 1)
L43* (p.Leu43Ter) 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.
L43* (p.Leu43Ter) variant details
- p.Leu43Ter
- rs1359868126
- gnomAD X-77923184-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0876
- CADD 0.98
- Population evidence available
- Structural context available
- Literature evidence available