E68K (p.Glu68Lys) variant of IL2RG (P31785)
E68K (p.Glu68Lys) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- rs1057520644
- ClinGen CA16608976
- ClinVar RCV000427716
- ClinVar RCV000638843
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.33
- MetaLR 0.87
- MetaSVM 0.87
- PolyPhen-2 0.99
- SIFT 0.14
- EVE 0.35
- ClinVar: Pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in… (PMID 8088810)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)