V106M (p.Val106Met) variant of IRF7 (Interferon regulatory factor 7)
V106M (p.Val106Met) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 39; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V106M (p.Val106Met) variant details
- p.Val106Met
- rs576761308
- ClinGen CA5783999
- ClinVar RCV001239070
- ClinVar RCV005851766
- Uncertain significance
- Immunodeficiency 39; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.31
- MetaLR 0.87
- MetaSVM 0.50
- CADD 10.50
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency 39; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available