E39Q (p.Glu39Gln) variant of CDKN1B (P46527)
E39Q (p.Glu39Gln) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- rs1592280796
- ClinGen CA383968720
- NCI-TCGA Cosmic COSV5743
- NCI-TCGA Cosmic COSV9996
- Uncertain significance
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome
- Missense
- 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
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)