D53E (p.Asp53Glu) variant of ATP7A (Copper-transporting ATPase 1)
D53E (p.Asp53Glu) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- gnomAD X-77988280-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.45
- CADD 19.80
- PolyPhen-2 0.68
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available