L5Q (p.Leu5Gln) variant of NBN (Nibrin)
L5Q (p.Leu5Gln) 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 0.34 / 1. The record also includes published literature and structural context.
L5Q (p.Leu5Gln) variant details
- p.Leu5Gln
- rs1586116142
- ClinGen CA371664190
- ClinVar RCV000793304
- Ensembl rs1586116142
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.76
- MetaLR 0.10
- MetaSVM -1.06
- PolyPhen-2 0.81
- SIFT 0.02
- MutPred 0.47
- 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)