C115Y (p.Cys115Tyr) variant of IL2RG (P31785)
C115Y (p.Cys115Tyr) 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 0.93 / 1. The record also includes published literature and structural context.
C115Y (p.Cys115Tyr) variant details
- p.Cys115Tyr
- rs1556330755
- ClinGen CA413496775
- ClinVar RCV000554205
- Ensembl rs1556330755
- Likely pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- 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)