N3D (p.Asn3Asp) variant of CDKN1B (P46527)
N3D (p.Asn3Asp) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N3D (p.Asn3Asp) variant details
- p.Asn3Asp
- rs1348090532
- ClinGen CA383967862
- cosmic curated COSV99963
- ClinVar RCV000570849
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)