E79C (p.Glu79Cys) variant of IL2RG (P31785)
E79C (p.Glu79Cys) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
E79C (p.Glu79Cys) variant details
- p.Glu79Cys
- rs2519647922
- ClinGen CA2580101348
- ClinVar RCV002309026
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)