V12M (p.Val12Met) variant of IRF7 (Interferon regulatory factor 7)
V12M (p.Val12Met) 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 0.34 / 1. The record also includes population frequency data and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- ExAC rs746593118
- TOPMed rs746593118
- gnomAD rs746593118
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.52
- MetaLR 0.74
- MetaSVM 0.27
- CADD 8.35
- PolyPhen-2 0.87
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available