Y40C (p.Tyr40Cys) variant of CDC73 (Parafibromin)
Y40C (p.Tyr40Cys) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parathyroid carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- rs1019931450
- ClinGen CA34408018
- ClinVar RCV001924269
- ClinVar RCV006367680
- Uncertain significance
- Parathyroid carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 0.98
- MetaLR 0.78
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (Parathyroid carcinoma; Hereditary cancer-predisposing syndrome)
- 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)