E45E (p.Glu45Glu) variant of ATP7A (Copper-transporting ATPase 1)
E45E (p.Glu45Glu) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E45E (p.Glu45Glu) variant details
- p.Glu45Glu
- gnomAD X-77988256-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 8.14
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available