R9P (p.Arg9Pro) variant of CDC73 (Parafibromin)
R9P (p.Arg9Pro) 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 0.84 / 1. The record also includes published literature and structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- rs2103111603
- ClinGen CA343972773
- ClinVar RCV002304087
- ClinVar RCV002427769
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- 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)