W90C (p.Trp90Cys) variant of IL2RG (P31785)
W90C (p.Trp90Cys) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
W90C (p.Trp90Cys) variant details
- p.Trp90Cys
- rs1569480047
- ClinGen CA413496943
- ClinVar RCV002607397
- ClinGen CA413496942
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.73
- MetaLR 0.74
- MetaSVM 0.27
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.60
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)