G711E (p.Gly711Glu) variant of ATP7B (Copper-transporting ATPase 2)
G711E (p.Gly711Glu) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G711E (p.Gly711Glu) variant details
- p.Gly711Glu
- rs2139545313
- ClinGen CA388023465
- ClinVar RCV001976510
- UniProt VAR 000720
- Conflicting interpretations
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.62
- CADD 24.10
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. (PMID 8931691)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)