N8* (p.Asn8Ter) variant of CDKN1B (P46527)
N8* (p.Asn8Ter) in CDKN1B (P46527) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N8* (p.Asn8Ter) variant details
- p.Asn8Ter
- rs2136355372
- ClinGen CA2573147857
- ClinVar RCV001923787
- ClinVar RCV002425256
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 30.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)