P53R (p.Pro53Arg) variant of ATP7B (Copper-transporting ATPase 2)
P53R (p.Pro53Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- ExAC rs764539745
- TOPMed rs764539745
- gnomAD rs764539745
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 17.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available