E15E (p.Glu15Glu) variant of ATP7A (Copper-transporting ATPase 1)
E15E (p.Glu15Glu) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E15E (p.Glu15Glu) variant details
- p.Glu15Glu
- gnomAD X-77971686-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 8.91
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available