V20M (p.Val20Met) variant of CDC73 (Parafibromin)
V20M (p.Val20Met) 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 0.38 / 1. The record also includes published literature and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- rs1197900406
- ClinGen CA343972847
- ClinVar RCV003184258
- ClinVar RCV005101226
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.19
- MetaLR 0.33
- MetaSVM -0.41
- PolyPhen-2 0.35
- SIFT 0.09
- EVE 0.11
- 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)