V73E (p.Val73Glu) variant of ATP7B (Copper-transporting ATPase 2)
V73E (p.Val73Glu) 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 published literature and structural context.
V73E (p.Val73Glu) variant details
- p.Val73Glu
- rs2547824925
- ClinGen CA2580614742
- ClinVar RCV002308008
- Likely pathogenic
- Frameshift
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)