D23E (p.Asp23Glu) variant of CDC73 (Parafibromin)
D23E (p.Asp23Glu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- rs1675465120
- ClinGen CA343972873
- ClinVar RCV004517632
- gnomAD rs1675465120
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.35
- MetaLR 0.33
- MetaSVM -0.87
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)