Y105C (p.Tyr105Cys) variant of IL2RG (P31785)
Y105C (p.Tyr105Cys) 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 0.90 / 1. The record also includes published literature and structural context.
Y105C (p.Tyr105Cys) variant details
- p.Tyr105Cys
- rs193922347
- ClinGen CA260411
- ClinVar RCV000030054
- UniProt VAR 002674
- Pathogenic
- in XSCID
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.92
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. (PMID 9058718)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)