Q10* (p.Gln10Ter) variant of CDC73 (Parafibromin)
Q10* (p.Gln10Ter) 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 0.43 / 1. The record also includes published literature and structural context.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- rs2103111608
- ClinGen CA343972777
- ClinVar RCV003501117
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.25
- MetaLR 0.44
- MetaSVM -0.40
- PolyPhen-2 0.02
- SIFT 0.49
- EVE 0.22
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)