R58P (p.Arg58Pro) variant of IRF7 (Interferon regulatory factor 7)
R58P (p.Arg58Pro) 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 0.57 / 1. The record also includes population frequency data and structural context.
R58P (p.Arg58Pro) variant details
- p.Arg58Pro
- ExAC rs766334448
- TOPMed rs766334448
- gnomAD rs766334448
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.84
- MetaLR 0.86
- MetaSVM 0.44
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available