P59A (p.Pro59Ala) variant of ATP7A (Copper-transporting ATPase 1)
P59A (p.Pro59Ala) 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.
P59A (p.Pro59Ala) variant details
- p.Pro59Ala
- rs1227178385
- gnomAD X-77975580-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 2.27
- Most common in the Ashkenazi Jewish population (allele frequency 0.002)
- Structural context available
- Literature evidence available