E28D (p.Glu28Asp) variant of IRF7 (Interferon regulatory factor 7)
E28D (p.Glu28Asp) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- 1000Genomes rs11544075
- ESP rs11544075
- ExAC rs11544075
- TOPMed rs11544075
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.26
- MetaLR 0.88
- MetaSVM 0.52
- CADD 11.50
- PolyPhen-2 0.77
- SIFT 0.13
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available