E44E (p.Glu44Glu) variant of ATP7A (Copper-transporting ATPase 1)
E44E (p.Glu44Glu) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E44E (p.Glu44Glu) variant details
- p.Glu44Glu
- rs2077572208
- gnomAD X-77975516-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0855
- CADD 0.76
- Population evidence available
- Structural context available
- Literature evidence available