K119* (p.Lys119Ter) variant of IL2RG (P31785)
K119* (p.Lys119Ter) 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 0.50 / 1. The record also includes published literature and structural context.
K119* (p.Lys119Ter) variant details
- p.Lys119Ter
- rs137852507
- ClinGen CA254974
- ClinVar RCV000010699
- ExAC rs137852507
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.12
- MetaLR 0.74
- MetaSVM -0.08
- PolyPhen-2 0.05
- SIFT 0.39
- EVE 0.23
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. (PMID 8462096)
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)