T20S (p.Thr20Ser) variant of NBN (Nibrin)
T20S (p.Thr20Ser) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T20S (p.Thr20Ser) variant details
- p.Thr20Ser
- rs1563584711
- ClinGen CA371663613
- ClinVar RCV002357946
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- AlphaMissense 0.19
- MetaLR 0.07
- MetaSVM -1.04
- CADD 20.00
- PolyPhen-2 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)