L162H (p.Leu162His) variant of IL2RG (P31785)
L162H (p.Leu162His) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XSCID. The record also includes published literature and structural context.
L162H (p.Leu162His) variant details
- p.Leu162His
- UniProt VAR 002683
- Pathogenic
- in XSCID
- Missense
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe… (PMID 8027558)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)