N84K (p.Asn84Lys) variant of IL2RG (P31785)
N84K (p.Asn84Lys) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
N84K (p.Asn84Lys) variant details
- p.Asn84Lys
- rs1356632210
- ClinGen CA413496996
- ClinVar RCV001758148
- UniProt VAR 002672
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.77
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for… (PMID 28747913)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)