E84K (p.Glu84Lys) variant of IRF7 (Interferon regulatory factor 7)
E84K (p.Glu84Lys) 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 0.49 / 1. The record also includes population frequency data and structural context.
E84K (p.Glu84Lys) variant details
- p.Glu84Lys
- rs751995586
- ClinGen CA216913071
- ClinVar RCV001317479
- TOPMed rs751995586
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.56
- MetaLR 0.78
- MetaSVM 0.10
- CADD 15.30
- PolyPhen-2 1.00
- SIFT 0.25
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available