E39* (p.Glu39Ter) variant of CDKN1B (P46527)
E39* (p.Glu39Ter) 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 0.53 / 1. The record also includes published literature and structural context.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- rs1592280796
- ClinGen CA383968716
- ClinVar RCV003619275
- NCI-TCGA Cosmic COSV5743
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.10
- MetaLR 0.67
- MetaSVM 0.38
- PolyPhen-2 0.94
- SIFT 0.10
- EVE 0.22
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)