Y84C (p.Tyr84Cys) variant of IFNGR1 (Interferon gamma receptor 1)
Y84C (p.Tyr84Cys) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Y84C (p.Tyr84Cys) variant details
- p.Tyr84Cys
- 1000Genomes rs180680034
- ExAC rs180680034
- TOPMed rs180680034
- gnomAD rs180680034
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.22
- CADD 1.28
- PolyPhen-2 0.06
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available