Y102* (p.Tyr102Ter) variant of ATP7B (Copper-transporting ATPase 2)
Y102* (p.Tyr102Ter) 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.
Y102* (p.Tyr102Ter) variant details
- p.Tyr102Ter
- rs1342474321
- ClinGen CA388044520
- ClinVar RCV003464951
- TOPMed rs1342474321
- Likely pathogenic
- Stop Gained
- 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)