N39S (p.Asn39Ser) variant of CDC73 (Parafibromin)
N39S (p.Asn39Ser) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Parathyroid carcinoma; Hyperparathyroid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- rs746972930
- ClinGen CA1303255
- ClinVar RCV001363508
- ClinVar RCV002329368
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma; Hyperparathyroid
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.65
- MetaLR 0.68
- MetaSVM 0.34
- CADD 26.60
- PolyPhen-2 0.73
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)