I27T (p.Ile27Thr) variant of IL2RG (P31785)
I27T (p.Ile27Thr) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The record also includes published literature and structural context.
I27T (p.Ile27Thr) variant details
- p.Ile27Thr
- rs2519648690
- ClinGen CA413497641
- ClinVar RCV003510102
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)