T56P (p.Thr56Pro) variant of CDC73 (Parafibromin)
T56P (p.Thr56Pro) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T56P (p.Thr56Pro) variant details
- p.Thr56Pro
- rs1675542041
- ClinGen CA343973104
- ClinVar RCV003083026
- ClinVar RCV004948995
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.85
- MetaLR 0.80
- MetaSVM 0.69
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)