V106L (p.Val106Leu) variant of IRF7 (Interferon regulatory factor 7)
V106L (p.Val106Leu) 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 0.52 / 1. The record also includes population frequency data and structural context.
V106L (p.Val106Leu) variant details
- p.Val106Leu
- 1000Genomes rs576761308
- ExAC rs576761308
- TOPMed rs576761308
- gnomAD rs576761308
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.25
- MetaLR 0.80
- MetaSVM 0.28
- CADD 8.79
- PolyPhen-2 0.51
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available