p.Leu81 Pro82del variant of ATP7A (Copper-transporting ATPase 1)
p.Leu81 Pro82del in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu81 Pro82del variant details
- gnomAD X-77988357-ACCCTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available