W155* (p.Trp155Ter) variant of IL2RG (P31785)
W155* (p.Trp155Ter) in IL2RG (P31785) 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.
W155* (p.Trp155Ter) variant details
- p.Trp155Ter
- rs1569479994
- ClinGen CA413496489
- ClinVar RCV000781480
- Ensembl rs1569479994
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)