Y84F (p.Tyr84Phe) variant of IFNGR1 (Interferon gamma receptor 1)
Y84F (p.Tyr84Phe) 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 0.09 / 1. The record also includes population frequency data and structural context.
Y84F (p.Tyr84Phe) variant details
- p.Tyr84Phe
- rs180680034
- ClinGen CA148230886
- ClinVar RCV001922630
- 1000Genomes rs180680034
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- REVEL 0.11
- CADD 0.12
- PolyPhen-2 0.02
- SIFT 0.50
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available