W2* (p.Trp2Ter) variant of NBN (Nibrin)
W2* (p.Trp2Ter) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W2* (p.Trp2Ter) variant details
- p.Trp2Ter
- rs1812244679
- ClinGen CA371664218
- ClinVar RCV001270990
- ClinVar RCV002537743
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)