L19V (p.Leu19Val) variant of NBN (Nibrin)
L19V (p.Leu19Val) 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 0.34 / 1. The record also includes published literature and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- rs1586112097
- ClinGen CA371663638
- ClinVar RCV001295567
- ClinVar RCV002350515
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.14
- MetaLR 0.16
- MetaSVM -0.89
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Likely benign
- UniProt: Likely benign
- 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)