E54D (p.Glu54Asp) variant of IRF7 (Interferon regulatory factor 7)
E54D (p.Glu54Asp) 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 0.48 / 1. The record also includes population frequency data and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- rs2493947679
- ClinGen CA378983585
- ClinVar RCV003751131
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- AlphaMissense 0.30
- MetaLR 0.87
- MetaSVM 0.46
- CADD 7.87
- PolyPhen-2 0.97
- SIFT 0.53
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available