P59Q (p.Pro59Gln) variant of ATP7A (Copper-transporting ATPase 1)
P59Q (p.Pro59Gln) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P59Q (p.Pro59Gln) variant details
- p.Pro59Gln
- gnomAD X-77988297-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.73
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available