K21N (p.Lys21Asn) variant of CDC73 (Parafibromin)
K21N (p.Lys21Asn) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K21N (p.Lys21Asn) variant details
- p.Lys21Asn
- rs1456354852
- ClinGen CA343972859
- ClinVar RCV003868448
- ClinVar RCV005794630
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.20
- MetaLR 0.32
- MetaSVM -0.91
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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: CDC73-Related Disorders. (PMID 20301744)