S6G (p.Ser6Gly) variant of CDC73 (Parafibromin)
S6G (p.Ser6Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- rs770544416
- ClinGen CA1303239
- ClinVar RCV002908835
- ClinVar RCV005794417
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.64
- MetaLR 0.65
- MetaSVM 0.25
- CADD 25.20
- PolyPhen-2 0.34
- 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)