I87T (p.Ile87Thr) variant of IFNGR1 (Interferon gamma receptor 1)
I87T (p.Ile87Thr) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Disseminated atypical mycobacterial infection; not provided; Immunodeficiency 27. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I87T (p.Ile87Thr) variant details
- p.Ile87Thr
- rs104893973
- ClinGen CA127599
- ClinVar RCV000019539
- ClinVar RCV000144034
- Pathogenic/Likely pathogenic
- Disseminated atypical mycobacterial infection; not provided; Immunodeficiency 27
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.61
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Disseminated atypical mycobacterial infection; not provided; Imm)
- EBI: Pathogenic (in IMD27A)
- UniProt: Pathogenic (in IMD27A)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency. (PMID 16195661)
- Cited in: Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. (PMID 20015550)