Q59* (p.Gln59Ter) variant of NBN (Nibrin)
Q59* (p.Gln59Ter) in NBN (Nibrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q59* (p.Gln59Ter) variant details
- p.Gln59Ter
- rs1554568427
- ClinGen CA371662638
- ClinVar RCV000586448
- ClinVar RCV000688264
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.04
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.72
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)