E29Q (p.Glu29Gln) variant of NFKB2 (Q00653)
E29Q (p.Glu29Gln) 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 0.33 / 1. The record also includes structural context.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- rs2061112300
- ClinGen CA377895869
- ClinVar RCV001052335
- TOPMed rs2061112300
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.18
- SIFT 0.28
- MutPred 0.15
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available