S31Y (p.Ser31Tyr) variant of CDC73 (Parafibromin)
S31Y (p.Ser31Tyr) 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; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S31Y (p.Ser31Tyr) variant details
- p.Ser31Tyr
- rs1558276199
- ClinGen CA343972927
- cosmic curated COSV10970
- ClinVar RCV000689930
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.76
- AlphaMissense 0.81
- MetaLR 0.65
- MetaSVM 0.41
- CADD 26.30
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)