E59* (p.Glu59Ter) variant of LRBA (P50851)
E59* (p.Glu59Ter) in LRBA (P50851) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
E59* (p.Glu59Ter) variant details
- p.Glu59Ter
- rs199469664
- ClinGen CA129912
- ClinVar RCV000029136
- ExAC rs199469664
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. (PMID 22608502)