I153N (p.Ile153Asn) variant of IL2RG (P31785)
I153N (p.Ile153Asn) 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 0.81 / 1. The record also includes published literature and structural context.
I153N (p.Ile153Asn) variant details
- p.Ile153Asn
- rs111033621
- ClinGen CA254985
- ClinVar RCV000010705
- UniProt VAR 002681
- Pathogenic
- in XSCID
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.83
- MetaLR 0.82
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.14
- EVE 0.68
- 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)