Q57H (p.Gln57His) variant of ATP7A (Copper-transporting ATPase 1)
Q57H (p.Gln57His) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q57H (p.Gln57His) variant details
- p.Gln57His
- gnomAD X-77975534-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.73
- Population evidence available
- Structural context available
- Literature evidence available