S6I (p.Ser6Ile) variant of CDC73 (Parafibromin)
S6I (p.Ser6Ile) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parathyroid carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- rs775940851
- ClinGen CA343972756
- ClinVar RCV002637659
- ClinVar RCV003162051
- Uncertain significance
- Parathyroid carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.84
- MetaLR 0.67
- MetaSVM 0.41
- PolyPhen-2 0.82
- SIFT 0.01
- EVE 0.76
- ClinVar: Uncertain significance (Parathyroid carcinoma; Hereditary cancer-predisposing syndrome)
- 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)