N56K (p.Asn56Lys) variant of NBN (Nibrin)
N56K (p.Asn56Lys) 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 0.42 / 1. The record also includes published literature and structural context.
N56K (p.Asn56Lys) variant details
- p.Asn56Lys
- rs1586111516
- ClinGen CA371662872
- ClinVar RCV003341868
- ClinGen CA371662876
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.17
- MetaLR 0.33
- MetaSVM -0.56
- PolyPhen-2 0.96
- SIFT 0.01
- MutPred 0.57
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)