Y54* (p.Tyr54Ter) variant of CDC73 (Parafibromin)
Y54* (p.Tyr54Ter) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y54* (p.Tyr54Ter) variant details
- p.Tyr54Ter
- rs121434265
- ClinGen CA252653
- cosmic curated COSV66466
- ClinVar RCV000003433
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. (PMID 14585940)
- Cited in: CDC73-Related Disorders. (PMID 20301744)