G114C (p.Gly114Cys) variant of IL2RG (P31785)
G114C (p.Gly114Cys) 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 0.93 / 1. The record also includes published literature and structural context.
G114C (p.Gly114Cys) variant details
- p.Gly114Cys
- rs2147750359
- ClinGen CA413496780
- ClinVar RCV001378640
- Ensembl rs2147750359
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.93
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)