N8Y (p.Asn8Tyr) variant of CDKN1B (P46527)
N8Y (p.Asn8Tyr) 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 0.44 / 1. The record also includes published literature and structural context.
N8Y (p.Asn8Tyr) variant details
- p.Asn8Tyr
- rs1946485763
- ClinGen CA383967964
- ClinVar RCV002302394
- ClinVar RCV005535328
- Uncertain significance
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.31
- MetaLR 0.42
- MetaSVM -0.28
- PolyPhen-2 0.06
- SIFT 0.05
- MutPred 0.18
- 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)