Q28Q (p.Gln28Gln) variant of ATP7A (Copper-transporting ATPase 1)
Q28Q (p.Gln28Gln) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q28Q (p.Gln28Gln) variant details
- p.Gln28Gln
- rs1603378828
- gnomAD X-77971725-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 6.96
- Most common in the Non-Finnish European population (allele frequency 7.1e-06)
- Structural context available
- Literature evidence available