S58N (p.Ser58Asn) variant of NBN (Nibrin)
S58N (p.Ser58Asn) 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 0.45 / 1. The record also includes published literature and structural context.
S58N (p.Ser58Asn) variant details
- p.Ser58Asn
- rs1586109204
- ClinGen CA371662645
- ClinVar RCV001012939
- Ensembl rs1586109204
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.56
- 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)