G90R (p.Gly90Arg) variant of IRF7 (Interferon regulatory factor 7)
G90R (p.Gly90Arg) in IRF7 (Interferon regulatory factor 7) 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 0.46 / 1. The record also includes population frequency data and structural context.
G90R (p.Gly90Arg) variant details
- p.Gly90Arg
- 1000Genomes rs768959432
- ExAC rs768959432
- TOPMed rs768959432
- gnomAD rs768959432
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.62
- MetaLR 0.79
- MetaSVM 0.20
- CADD 15.70
- PolyPhen-2 1.00
- SIFT 0.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available