L19W (p.Leu19Trp) variant of NBN (Nibrin)
L19W (p.Leu19Trp) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L19W (p.Leu19Trp) variant details
- p.Leu19Trp
- rs749263651
- ClinGen CA4803063
- ClinVar RCV000562197
- ClinVar RCV001853722
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.53
- AlphaMissense 0.41
- MetaLR 0.25
- MetaSVM -0.57
- CADD 29.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)