E54K (p.Glu54Lys) variant of IRF7 (Interferon regulatory factor 7)
E54K (p.Glu54Lys) 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 0.78 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs1856761964
- ClinGen CA378983589
- ClinVar RCV003750355
- TOPMed rs1856761964
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.44
- MetaLR 0.95
- MetaSVM 1.06
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.02
- 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