G114D (p.Gly114Asp) variant of IL2RG (P31785)
G114D (p.Gly114Asp) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XSCID. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G114D (p.Gly114Asp) variant details
- p.Gly114Asp
- rs111033620
- ClinGen CA254983
- ClinVar RCV000010703
- UniProt VAR 002675
- Pathogenic
- in XSCID
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency… (PMID 8401490)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)