L18I (p.Leu18Ile) variant of NBN (Nibrin)
L18I (p.Leu18Ile) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- rs587781939
- ClinGen CA166136
- ClinVar RCV000130303
- ClinVar RCV000232902
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.16
- CADD 25.60
- PolyPhen-2 0.61
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)