I13F (p.Ile13Phe) variant of CDC73 (Parafibromin)
I13F (p.Ile13Phe) 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 0.36 / 1. The record also includes published literature and structural context.
I13F (p.Ile13Phe) variant details
- p.Ile13Phe
- rs762220544
- ClinGen CA343972799
- ClinVar RCV003013712
- ClinVar RCV005323285
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.81
- PolyPhen-2 0.00
- SIFT 0.62
- EVE 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)