S225R (p.Ser225Arg) variant of IL2RG (P31785)
S225R (p.Ser225Arg) 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 0.92 / 1. The record also includes published literature and structural context.
S225R (p.Ser225Arg) variant details
- p.Ser225Arg
- rs1569479913
- ClinGen CA413495995
- ClinVar RCV000686497
- Ensembl rs1569479913
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)