A86E (p.Ala86Glu) variant of IRF7 (Interferon regulatory factor 7)
A86E (p.Ala86Glu) 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 0.35 / 1. The record also includes population frequency data and structural context.
A86E (p.Ala86Glu) variant details
- p.Ala86Glu
- ExAC rs771414323
- TOPMed rs771414323
- gnomAD rs771414323
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.23
- MetaLR 0.77
- MetaSVM 0.07
- CADD 8.00
- PolyPhen-2 0.96
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available