Q63Q (p.Gln63Gln) variant of ATP7A (Copper-transporting ATPase 1)
Q63Q (p.Gln63Gln) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q63Q (p.Gln63Gln) variant details
- p.Gln63Gln
- rs782389057
- gnomAD X-77988310-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 6.53
- Population evidence available
- Structural context available
- Literature evidence available