L34R (p.Leu34Arg) variant of NBN (Nibrin)
L34R (p.Leu34Arg) 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; Microcephaly, normal int. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
L34R (p.Leu34Arg) variant details
- p.Leu34Arg
- rs1012390181
- ClinGen CA181281117
- ClinVar RCV000549829
- ClinVar RCV002298649
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Microcephaly, normal int
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 0.33
- MetaLR 0.67
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Microcep)
- 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)