G22* (p.Gly22Ter) variant of CDC73 (Parafibromin)
G22* (p.Gly22Ter) in CDC73 (Parafibromin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
G22* (p.Gly22Ter) variant details
- p.Gly22Ter
- rs1675465013
- ClinGen CA343972863
- cosmic curated COSV66470
- ClinVar RCV001241910
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.77
- MetaLR 0.59
- MetaSVM 0.22
- PolyPhen-2 0.54
- SIFT 0.04
- EVE 0.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)