G46C (p.Gly46Cys) variant of ATP7B (Copper-transporting ATPase 2)
G46C (p.Gly46Cys) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G46C (p.Gly46Cys) variant details
- p.Gly46Cys
- TOPMed rs756032027
- gnomAD rs756032027
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.50
- ESM-1b 0.23
- AlphaMissense 0.11
- CADD 21.70
- PolyPhen-2 0.68
- SIFT 0.05
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available