C182Y (p.Cys182Tyr) variant of IL2RG (P31785)
C182Y (p.Cys182Tyr) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C182Y (p.Cys182Tyr) variant details
- p.Cys182Tyr
- rs1064794027
- ClinGen CA16621484
- ClinVar RCV000478606
- ClinVar RCV001192508
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (X-linked severe combined immunodeficiency)
- EBI: Likely pathogenic (in XSCID)
- UniProt: Likely pathogenic (in XSCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)