Q63R (p.Gln63Arg) variant of ATP7A (Copper-transporting ATPase 1)
Q63R (p.Gln63Arg) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- gnomAD X-77988309-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.13
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available