Y11H (p.Tyr11His) variant of CDC73 (Parafibromin)
Y11H (p.Tyr11His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
Y11H (p.Tyr11His) variant details
- p.Tyr11His
- rs2103111616
- ClinGen CA343972785
- ClinVar RCV002322968
- NCI-TCGA TCGA novel
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- AlphaMissense 0.96
- MetaLR 0.78
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Uncertain significance (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)