L146P (p.Leu146Pro) variant of IL2RG (P31785)
L146P (p.Leu146Pro) 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.
L146P (p.Leu146Pro) variant details
- p.Leu146Pro
- rs2519647063
- ClinGen CA413496558
- ClinVar RCV003041455
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)