G1186R (p.Gly1186Arg) variant of ATP7B (Copper-transporting ATPase 2)
G1186R (p.Gly1186Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G1186R (p.Gly1186Arg) variant details
- p.Gly1186Arg
- rs786204547
- ClinGen CA388025845
- ClinVar RCV000674475
- TOPMed rs786204547
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 35.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)