R78* (p.Arg78Ter) variant of DPYD (Q12882)
R78* (p.Arg78Ter) in DPYD (Q12882) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R78* (p.Arg78Ter) variant details
- p.Arg78Ter
- rs776692894
- ClinGen CA963761
- NCI-TCGA Cosmic COSV6008
- cosmic curated COSV60080
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 41.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)