Q56R (p.Gln56Arg) variant of ATP7B (Copper-transporting ATPase 2)
Q56R (p.Gln56Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q56R (p.Gln56Arg) variant details
- p.Gln56Arg
- gnomAD rs1399067288
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.94
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available