S31F (p.Ser31Phe) variant of CDC73 (Parafibromin)
S31F (p.Ser31Phe) 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 0.68 / 1. The record also includes published literature and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- rs1558276199
- ClinGen CA343972929
- ClinVar RCV003608209
- ClinVar RCV005311035
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.81
- MetaLR 0.65
- MetaSVM 0.41
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.57
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- 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)