V106E (p.Val106Glu) variant of IRF7 (Interferon regulatory factor 7)
V106E (p.Val106Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V106E (p.Val106Glu) variant details
- p.Val106Glu
- rs376350717
- ClinGen CA5783998
- ClinVar RCV000684860
- 1000Genomes rs376350717
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.25
- MetaLR 0.75
- MetaSVM 0.18
- CADD 10.50
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.015)
- Structural context available