K16R (p.Lys16Arg) variant of CDC73 (Parafibromin)
K16R (p.Lys16Arg) 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; Hyperparathyroid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- rs2527280969
- ClinGen CA343972824
- ClinVar RCV002337860
- ClinVar RCV003464465
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma; Hyperparathyroid
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.40
- MetaLR 0.51
- MetaSVM -0.19
- CADD 23.80
- PolyPhen-2 0.07
- SIFT 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)