Q4E (p.Gln4Glu) variant of ATP7B (Copper-transporting ATPase 2)
Q4E (p.Gln4Glu) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q4E (p.Gln4Glu) variant details
- p.Gln4Glu
- rs1213833059
- ClinGen CA388047706
- ClinVar RCV002691258
- gnomAD rs1213833059
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)