G12E (p.Gly12Glu) variant of NBN (Nibrin)
G12E (p.Gly12Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs730881860
- ClinGen CA195890
- ClinVar RCV000166444
- ClinVar RCV001220952
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.01
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.10
- CADD 10.50
- PolyPhen-2 0.39
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)