G78V (p.Gly78Val) variant of IRF7 (Interferon regulatory factor 7)
G78V (p.Gly78Val) 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 0.29 / 1. The record also includes population frequency data and structural context.
G78V (p.Gly78Val) variant details
- p.Gly78Val
- ExAC rs751103357
- TOPMed rs751103357
- gnomAD rs751103357
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.09
- MetaLR 0.78
- MetaSVM 0.24
- CADD 6.49
- PolyPhen-2 0.03
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available