R43L (p.Arg43Leu) variant of NBN (Nibrin)
R43L (p.Arg43Leu) 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 0.53 / 1. The record also includes published literature and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- rs759146120
- ClinGen CA371663045
- ClinVar RCV001235839
- ClinVar RCV005372612
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.96
- MetaLR 0.41
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- 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)