T60R (p.Thr60Arg) variant of NBN (Nibrin)
T60R (p.Thr60Arg) 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 0.43 / 1. The record also includes published literature and structural context.
T60R (p.Thr60Arg) variant details
- p.Thr60Arg
- rs1586109164
- ClinGen CA371662628
- ClinVar RCV002407844
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.09
- MetaLR 0.43
- MetaSVM -0.59
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.69
- 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)