Y52D (p.Tyr52Asp) variant of ATP7A (Copper-transporting ATPase 1)
Y52D (p.Tyr52Asp) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y52D (p.Tyr52Asp) variant details
- p.Tyr52Asp
- gnomAD X-77974763-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 9.97
- Population evidence available
- Structural context available
- Literature evidence available