R74* (p.Arg74Ter) variant of DPYD (Q12882)
R74* (p.Arg74Ter) in DPYD (Q12882) 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.
R74* (p.Arg74Ter) variant details
- p.Arg74Ter
- rs189768576
- ClinGen CA963764
- cosmic curated COSV10590
- ClinVar RCV000411323
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)