R224P (p.Arg224Pro) variant of IL2RG (P31785)
R224P (p.Arg224Pro) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R224P (p.Arg224Pro) variant details
- p.Arg224Pro
- rs775127703
- ClinGen CA413496002
- ClinVar RCV003510334
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.10
- MetaLR 0.88
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.37
- ClinVar: Pathogenic (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)