N31K (p.Asn31Lys) variant of CDKN1B (P46527)
N31K (p.Asn31Lys) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- rs577554685
- ClinGen CA383968505
- ClinVar RCV001914807
- ClinVar RCV005792189
- Uncertain significance
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.56
- CADD 25.30
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)