Y67* (p.Tyr67Ter) variant of ADA (Adenosine deaminase)
Y67* (p.Tyr67Ter) in ADA (Adenosine deaminase) 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.
Y67* (p.Tyr67Ter) variant details
- p.Tyr67Ter
- rs1419063255
- ClinGen CA409121739
- ClinVar RCV001388888
- TOPMed rs1419063255
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)