E59* (p.Glu59Ter) variant of IL2RG (P31785)
E59* (p.Glu59Ter) in IL2RG (P31785) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
E59* (p.Glu59Ter) variant details
- p.Glu59Ter
- rs2092262517
- ClinGen CA413497183
- ClinVar RCV002222990
- Ensembl rs2092262517
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.07
- MetaLR 0.24
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.42
- EVE 0.31
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)