G22E (p.Gly22Glu) variant of CDC73 (Parafibromin)
G22E (p.Gly22Glu) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- rs1675465059
- ClinGen CA343972864
- ClinVar RCV003054125
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.27
- AlphaMissense 0.26
- MetaLR 0.54
- MetaSVM 0.03
- CADD 22.90
- PolyPhen-2 0.49
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)