E45K (p.Glu45Lys) variant of ATP7A (Copper-transporting ATPase 1)
E45K (p.Glu45Lys) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- gnomAD X-77988254-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.28
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available