Y24D (p.Tyr24Asp) variant of NBN (Nibrin)
Y24D (p.Tyr24Asp) 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 0.90 / 1. The record also includes published literature and structural context.
Y24D (p.Tyr24Asp) variant details
- p.Tyr24Asp
- rs1812137322
- ClinGen CA371663511
- ClinVar RCV001190382
- Ensembl rs1812137322
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.93
- MetaLR 0.87
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- 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)