G711W (p.Gly711Trp) variant of ATP7B (Copper-transporting ATPase 2)
G711W (p.Gly711Trp) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wilson disease; not provided. 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.
G711W (p.Gly711Trp) variant details
- p.Gly711Trp
- rs1394999756
- ClinGen CA388023467
- cosmic curated COSV54439
- ClinVar RCV000671462
- Pathogenic/Likely pathogenic
- Wilson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.71
- MetaSVM 0.42
- CADD 24.90
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease; not provided)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: A study of Wilson disease mutations in Britain. (PMID 10502777)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)