W240R (p.Trp240Arg) variant of IL2RG (P31785)
W240R (p.Trp240Arg) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
W240R (p.Trp240Arg) variant details
- p.Trp240Arg
- rs1057517950
- ClinGen CA16043330
- ClinVar RCV000413285
- ClinVar RCV006462584
- Pathogenic/Likely pathogenic
- not provided; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- MetaLR 0.95
- MetaSVM 1.05
- PolyPhen-2 0.28
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked severe combined immunodeficiency)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)