Q39R (p.Gln39Arg) variant of NBN (Nibrin)
Q39R (p.Gln39Arg) 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; not provided; Microcephaly, normal inte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- rs765551184
- ClinGen CA4803054
- ClinVar RCV002632077
- ClinVar RCV003167543
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Microcephaly, normal inte
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.51
- AlphaMissense 0.28
- MetaLR 0.59
- MetaSVM 0.04
- CADD 24.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Microceph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)