Y125C (p.Tyr125Cys) variant of IL2RG (P31785)
Y125C (p.Tyr125Cys) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Combined immunodeficiency, X-linked; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
Y125C (p.Tyr125Cys) variant details
- p.Tyr125Cys
- rs2092261313
- ClinGen CA413496701
- ClinVar RCV001280968
- Ensembl rs2092261313
- Likely pathogenic
- Combined immunodeficiency, X-linked; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.87
- MetaLR 0.87
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Combined immunodeficiency, X-linked; X-linked severe combined im)
- EBI: Likely pathogenic (in XSCID)
- UniProt: Likely pathogenic (in XSCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)