F119S (p.Phe119Ser) variant of IFNGR1 (Interferon gamma receptor 1)
F119S (p.Phe119Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
F119S (p.Phe119Ser) variant details
- p.Phe119Ser
- rs1240268455
- ClinGen CA365775616
- ClinVar RCV002861467
- gnomAD rs1240268455
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.60
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available