C72R (p.Cys72Arg) variant of ATP7B (Copper-transporting ATPase 2)
C72R (p.Cys72Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C72R (p.Cys72Arg) variant details
- p.Cys72Arg
- TOPMed rs1333511931
- gnomAD rs1333511931
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available