A14P (p.Ala14Pro) variant of ATP7B (Copper-transporting ATPase 2)
A14P (p.Ala14Pro) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- rs2547323808
- ClinGen CA2580087638
- ClinVar RCV002857738
- Pathogenic
- Frameshift
- EBI: Pathogenic (in dbSNP:rs587783319)
- UniProt: Pathogenic (in dbSNP:rs587783319)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)