Q54* (p.Gln54Ter) variant of IL1RN (P18510)
Q54* (p.Gln54Ter) in IL1RN (P18510) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q54* (p.Gln54Ter) variant details
- p.Gln54Ter
- rs121913162
- ClinGen CA124205
- ClinVar RCV000015790
- ClinVar RCV000084164
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. (PMID 19494218)