L172Q (p.Leu172Gln) variant of IL2RG (P31785)
L172Q (p.Leu172Gln) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked severe combined immunodeficiency. The record also includes published literature and structural context.
L172Q (p.Leu172Gln) variant details
- p.Leu172Gln
- rs2519646646
- ClinGen CA413496382
- ClinVar RCV003509056
- UniProt VAR 002685
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. (PMID 9058718)
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)