A28D (p.Ala28Asp) variant of CDKN1B (P46527)
A28D (p.Ala28Asp) 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 0.47 / 1. The record also includes published literature and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- rs1592280774
- ClinGen CA383968398
- ClinVar RCV002434896
- ClinVar RCV003099931
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.51
- MetaLR 0.50
- MetaSVM -0.15
- PolyPhen-2 0.93
- SIFT 0.29
- EVE 0.16
- 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)