R103G (p.Arg103Gly) variant of IRF7 (Interferon regulatory factor 7)
R103G (p.Arg103Gly) 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 0.38 / 1. The record also includes population frequency data and structural context.
R103G (p.Arg103Gly) variant details
- p.Arg103Gly
- ExAC rs754142854
- TOPMed rs754142854
- gnomAD rs754142854
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.22
- CADD 8.79
- PolyPhen-2 0.04
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available