E2K (p.Glu2Lys) variant of NFKB2 (Q00653)
E2K (p.Glu2Lys) 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 0.31 / 1. The record also includes structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs2061101667
- ClinGen CA377895674
- ClinVar RCV001240322
- Ensembl rs2061101667
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.19
- MetaLR 0.06
- MetaSVM -1.05
- PolyPhen-2 0.03
- SIFT 0.03
- MutPred 0.22
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available