E82K (p.Glu82Lys) variant of IRF7 (Interferon regulatory factor 7)
E82K (p.Glu82Lys) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar 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.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- ExAC rs765588606
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.18
- MetaLR 0.67
- MetaSVM -0.06
- CADD 21.40
- PolyPhen-2 0.68
- SIFT 0.41
- ClinVar: Uncertain significance (Immunodeficiency 39)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available