L5V (p.Leu5Val) variant of NBN (Nibrin)
L5V (p.Leu5Val) 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 0.31 / 1. The record also includes published literature and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs1563588747
- ClinGen CA371664193
- ClinVar RCV000776598
- ClinVar RCV001337830
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.05
- MetaLR 0.05
- MetaSVM -1.09
- PolyPhen-2 0.00
- SIFT 0.63
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)