N56S (p.Asn56Ser) variant of NBN (Nibrin)
N56S (p.Asn56Ser) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; Microcephaly, normal int. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
N56S (p.Asn56Ser) variant details
- p.Asn56Ser
- rs1554569009
- ClinGen CA371662880
- ClinVar RCV000636725
- ClinVar RCV002248838
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Microcephaly, normal int
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -1.03
- PolyPhen-2 0.12
- SIFT 0.44
- MutPred 0.43
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; 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)