P53L (p.Pro53Leu) variant of ATP7B (Copper-transporting ATPase 2)
P53L (p.Pro53Leu) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- ExAC rs764539745
- TOPMed rs764539745
- gnomAD rs764539745
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available