P3Q (p.Pro3Gln) variant of ATP7A (Copper-transporting ATPase 1)
P3Q (p.Pro3Gln) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- gnomAD X-77923096-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 2.99
- Population evidence available
- Structural context available
- Literature evidence available