E28Q (p.Glu28Gln) variant of IRF7 (Interferon regulatory factor 7)
E28Q (p.Glu28Gln) in IRF7 (Interferon regulatory factor 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- ExAC rs762093032
- gnomAD rs762093032
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.16
- MetaLR 0.84
- MetaSVM 0.49
- CADD 20.20
- PolyPhen-2 0.75
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available