Y102* (p.Tyr102Ter) variant of ADA (Adenosine deaminase)
Y102* (p.Tyr102Ter) in ADA (Adenosine deaminase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
Y102* (p.Tyr102Ter) variant details
- p.Tyr102Ter
- rs149520391
- ClinGen CA409121379
- ClinVar RCV001902993
- 1000Genomes rs149520391
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)