G22A (p.Gly22Ala) variant of CDC73 (Parafibromin)
G22A (p.Gly22Ala) 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 0.46 / 1. The record also includes published literature and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- rs1675465059
- ClinGen CA343972865
- ClinVar RCV001061587
- ClinVar RCV005306262
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.26
- MetaLR 0.54
- MetaSVM 0.03
- PolyPhen-2 0.49
- SIFT 0.09
- EVE 0.17
- 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)