G46R (p.Gly46Arg) variant of ATP7B (Copper-transporting ATPase 2)
G46R (p.Gly46Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- TOPMed rs756032027
- gnomAD rs756032027
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available