Q118A (p.Gln118Ala) variant of IL2RG (P31785)
Q118A (p.Gln118Ala) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q118A (p.Gln118Ala) variant details
- p.Gln118Ala
- rs2519647217
- ClinGen CA2697553151
- ClinVar RCV003510264
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)