F27L (p.Phe27Leu) variant of CDC73 (Parafibromin)
F27L (p.Phe27Leu) 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; not provided; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- rs2527281320
- ClinGen CA343972897
- ClinVar RCV003080361
- ClinVar RCV004765670
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.89
- MetaLR 0.81
- MetaSVM 0.76
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Parathyro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)