E16K (p.Glu16Lys) variant of IRF7 (Interferon regulatory factor 7)
E16K (p.Glu16Lys) 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 0.61 / 1. The record also includes population frequency data and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs748516995
- ClinGen CA5784107
- ClinVar RCV002659619
- ExAC rs748516995
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.46
- MetaLR 0.85
- MetaSVM 0.63
- CADD 20.60
- PolyPhen-2 0.82
- SIFT 0.16
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00026)
- Structural context available