Q20* (p.Gln20Ter) variant of CDKN1B (P46527)
Q20* (p.Gln20Ter) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- rs1946487230
- ClinGen CA383968213
- NCI-TCGA Cosmic COSV5743
- cosmic curated COSV57431
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 37.00
- 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: Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine… (PMID 29398453)