Q10L (p.Gln10Leu) variant of CDC73 (Parafibromin)
Q10L (p.Gln10Leu) 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 0.49 / 1. The record also includes published literature and structural context.
Q10L (p.Gln10Leu) variant details
- p.Gln10Leu
- rs2103111611
- ClinGen CA343972780
- ClinVar RCV002256988
- ClinVar RCV003607431
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.32
- MetaLR 0.48
- MetaSVM -0.26
- PolyPhen-2 0.00
- SIFT 0.09
- EVE 0.52
- 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)