L5R (p.Leu5Arg) variant of NBN (Nibrin)
L5R (p.Leu5Arg) 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 0.34 / 1. The record also includes published literature and structural context.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- rs1586116142
- ClinGen CA371664187
- ClinVar RCV002389908
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.76
- MetaLR 0.10
- MetaSVM -1.06
- PolyPhen-2 0.81
- SIFT 0.02
- MutPred 0.47
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)