R70* (p.Arg70Ter) variant of DPYD (Q12882)
R70* (p.Arg70Ter) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R70* (p.Arg70Ter) variant details
- p.Arg70Ter
- rs141597515
- ClinGen CA963767
- cosmic curated COSV10003
- ClinVar RCV000409115
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)