V57G (p.Val57Gly) variant of ATP7B (Copper-transporting ATPase 2)
V57G (p.Val57Gly) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes population frequency data, published literature, and structural context.
V57G (p.Val57Gly) variant details
- p.Val57Gly
- rs755267357
- ClinGen CA6989606
- ClinVar RCV002308133
- Likely pathogenic
- Frameshift
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)