Q39L (p.Gln39Leu) variant of NBN (Nibrin)
Q39L (p.Gln39Leu) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
Q39L (p.Gln39Leu) variant details
- p.Gln39Leu
- rs765551184
- ClinGen CA371663142
- ClinVar RCV001059176
- ClinVar RCV002327330
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.28
- MetaLR 0.59
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)