K90E (p.Lys90Glu) variant of ATP7B (Copper-transporting ATPase 2)
K90E (p.Lys90Glu) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
K90E (p.Lys90Glu) variant details
- p.Lys90Glu
- ESP rs368013962
- TOPMed rs368013962
- gnomAD rs368013962
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- ESM-1b 0.89
- AlphaMissense 0.09
- Structural context available