Q131* (p.Gln131Ter) variant of IL2RG (P31785)
Q131* (p.Gln131Ter) in IL2RG (P31785) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q131* (p.Gln131Ter) variant details
- p.Gln131Ter
- rs1131691652
- ClinGen CA413496661
- ClinVar RCV000493602
- Ensembl rs1131691652
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available