D78E (p.Asp78Glu) variant of ATP7B (Copper-transporting ATPase 2)
D78E (p.Asp78Glu) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
D78E (p.Asp78Glu) variant details
- p.Asp78Glu
- ExAC rs774309766
- gnomAD rs774309766
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available