S238N (p.Ser238Asn) variant of IL2RG (P31785)
S238N (p.Ser238Asn) 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 0.90 / 1. The record also includes published literature and structural context.
S238N (p.Ser238Asn) variant details
- p.Ser238Asn
- rs2147748142
- ClinGen CA413495906
- ClinVar RCV001379604
- Ensembl rs2147748142
- Pathogenic
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.91
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (X-linked severe combined immunodeficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)