G78D (p.Gly78Asp) variant of IRF7 (Interferon regulatory factor 7)
G78D (p.Gly78Asp) 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 0.21 / 1. The record also includes population frequency data and structural context.
G78D (p.Gly78Asp) variant details
- p.Gly78Asp
- rs751103357
- ClinGen CA5784031
- ClinVar RCV000800016
- ExAC rs751103357
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- AlphaMissense 0.06
- MetaLR 0.46
- MetaSVM -0.12
- CADD 2.96
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00053)
- Structural context available