D3G (p.Asp3Gly) variant of CDC73 (Parafibromin)
D3G (p.Asp3Gly) 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; not provided; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D3G (p.Asp3Gly) variant details
- p.Asp3Gly
- rs1675462949
- ClinGen CA343972739
- ClinVar RCV001060938
- ClinVar RCV002374954
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.79
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Parathyro)
- 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)