Q57P (p.Gln57Pro) variant of ATP7A (Copper-transporting ATPase 1)
Q57P (p.Gln57Pro) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q57P (p.Gln57Pro) variant details
- p.Gln57Pro
- gnomAD X-77975533-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0885
- CADD 1.22
- Most common in the African/African-American population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available