G49C (p.Gly49Cys) variant of CDC73 (Parafibromin)
G49C (p.Gly49Cys) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G49C (p.Gly49Cys) variant details
- p.Gly49Cys
- rs200806263
- ClinGen CA1303277
- ClinVar RCV000793445
- ClinVar RCV001011689
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.77
- MetaLR 0.81
- MetaSVM 0.71
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Parathyro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)