D37E (p.Asp37Glu) variant of CDKN1B (P46527)
D37E (p.Asp37Glu) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
D37E (p.Asp37Glu) variant details
- p.Asp37Glu
- rs1565419320
- ClinGen CA383968684
- ClinVar RCV000690919
- ClinVar RCV002255507
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.69
- MetaLR 0.69
- MetaSVM 0.04
- PolyPhen-2 0.47
- SIFT 0.04
- EVE 0.66
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- 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)