R21* (p.Arg21Ter) variant of DPYD (Q12882)
R21* (p.Arg21Ter) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R21* (p.Arg21Ter) variant details
- p.Arg21Ter
- rs72549310
- ClinGen CA199079
- cosmic curated COSV10519
- ClinVar RCV000169198
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)