R43* (p.Arg43Ter) variant of NBN (Nibrin)
R43* (p.Arg43Ter) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R43* (p.Arg43Ter) variant details
- p.Arg43Ter
- rs200287925
- ClinGen CA167743
- ClinVar RCV000131193
- ClinVar RCV000409406
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-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)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)