Q95E (p.Gln95Glu) variant of ATP7B (Copper-transporting ATPase 2)
Q95E (p.Gln95Glu) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q95E (p.Gln95Glu) variant details
- p.Gln95Glu
- ExAC rs756929892
- TOPMed rs756929892
- gnomAD rs756929892
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available