G1149R (p.Gly1149Arg) variant of ATP7B (Copper-transporting ATPase 2)
G1149R (p.Gly1149Arg) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G1149R (p.Gly1149Arg) variant details
- p.Gly1149Arg
- rs1957309469
- ClinVar RCV004577239
- TOPMed rs1957309469
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Likely pathogenic (in WD)
- UniProt: Likely pathogenic (in WD)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)