Q57K (p.Gln57Lys) variant of ATP7A (Copper-transporting ATPase 1)
Q57K (p.Gln57Lys) 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.
Q57K (p.Gln57Lys) variant details
- p.Gln57Lys
- gnomAD X-77975544-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 2.00
- Population evidence available
- Structural context available
- Literature evidence available