G988R (p.Gly988Arg) variant of ATP7B (Copper-transporting ATPase 2)
G988R (p.Gly988Arg) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G988R (p.Gly988Arg) variant details
- p.Gly988Arg
- rs199623434
- ClinGen CA250082177
- ClinVar RCV000672021
- UniProt VAR 044469
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism… (PMID 16283883)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)