G76E (p.Gly76Glu) variant of IRF7 (Interferon regulatory factor 7)
G76E (p.Gly76Glu) 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 0.46 / 1. The record also includes population frequency data and structural context.
G76E (p.Gly76Glu) variant details
- p.Gly76Glu
- rs781248490
- ClinGen CA5784033
- ClinVar RCV003750590
- ExAC rs781248490
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.11
- MetaLR 0.66
- MetaSVM -0.09
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available