E14Q (p.Glu14Gln) variant of NBN (Nibrin)
E14Q (p.Glu14Gln) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- rs745439506
- ClinGen CA371663738
- ClinVar RCV003618415
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.19
- MetaLR 0.06
- MetaSVM -1.07
- PolyPhen-2 0.57
- SIFT 0.01
- MutPred 0.44
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)