E86K (p.Glu86Lys) variant of NFKB2 (Q00653)
E86K (p.Glu86Lys) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- rs200369413
- ClinGen CA5664503
- ClinVar RCV003743425
- 1000Genomes rs200369413
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 24.40
- PolyPhen-2 0.48
- SIFT 0.46
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available