N79S (p.Asn79Ser) variant of IFNGR1 (Interferon gamma receptor 1)
N79S (p.Asn79Ser) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Disseminated atypical mycobacterial infection; Immunodeficiency 27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N79S (p.Asn79Ser) variant details
- p.Asn79Ser
- rs377227464
- ClinGen CA4019004
- ClinVar RCV000689808
- ClinVar RCV002232890
- Uncertain significance
- Disseminated atypical mycobacterial infection; Immunodeficiency 27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.32
- CADD 14.70
- PolyPhen-2 0.97
- SIFT 0.06
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection; Immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available