E45G (p.Glu45Gly) variant of ATP7A (Copper-transporting ATPase 1)
E45G (p.Glu45Gly) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- 1000Genomes rs782507121
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.29
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available