L28* (p.Leu28Ter) variant of ADA (Adenosine deaminase)
L28* (p.Leu28Ter) in ADA (Adenosine deaminase) 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.
L28* (p.Leu28Ter) variant details
- p.Leu28Ter
- rs2516196919
- ClinGen CA409122450
- ClinVar RCV002308146
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)