A65D (p.Ala65Asp) variant of ATP7A (Copper-transporting ATPase 1)
A65D (p.Ala65Asp) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A65D (p.Ala65Asp) variant details
- p.Ala65Asp
- gnomAD X-77975578-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 2.00
- Population evidence available
- Structural context available
- Literature evidence available