K3* (p.Lys3Ter) variant of NBN (Nibrin)
K3* (p.Lys3Ter) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K3* (p.Lys3Ter) variant details
- p.Lys3Ter
- rs779098734
- ClinGen CA4803108
- ClinVar RCV000581960
- ClinVar RCV000707330
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-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)