C115R (p.Cys115Arg) variant of IL2RG (P31785)
C115R (p.Cys115Arg) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XSCID. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C115R (p.Cys115Arg) variant details
- p.Cys115Arg
- rs111033622
- ClinGen CA254990
- ClinVar RCV000010708
- UniProt VAR 002677
- Pathogenic
- in XSCID
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T… (PMID 8900089)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)