W90* (p.Trp90Ter) variant of IL2RG (P31785)
W90* (p.Trp90Ter) in IL2RG (P31785) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
W90* (p.Trp90Ter) variant details
- p.Trp90Ter
- rs1569480047
- ClinGen CA413496944
- ClinVar RCV000690121
- Ensembl rs1569480047
- Pathogenic
- Stop Gained
- 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
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)