Q57R (p.Gln57Arg) variant of ATP7A (Copper-transporting ATPase 1)
Q57R (p.Gln57Arg) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q57R (p.Gln57Arg) variant details
- p.Gln57Arg
- gnomAD rs1557231567
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.36
- CADD 22.90
- PolyPhen-2 0.57
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available