G47D (p.Gly47Asp) variant of ATP7B (Copper-transporting ATPase 2)
G47D (p.Gly47Asp) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- TOPMed rs1349308572
- gnomAD rs1349308572
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 9.01
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available