Q14P (p.Gln14Pro) variant of CDC73 (Parafibromin)
Q14P (p.Gln14Pro) 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 0.35 / 1. The record also includes published literature and structural context.
Q14P (p.Gln14Pro) variant details
- p.Gln14Pro
- rs767638609
- ClinGen CA343972808
- ClinVar RCV002327844
- ClinVar RCV003094581
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.40
- MetaLR 0.25
- MetaSVM -0.71
- PolyPhen-2 0.01
- SIFT 0.13
- EVE 0.13
- 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)