R235Q (p.Arg235Gln) variant of DPYD (Q12882)
R235Q (p.Arg235Gln) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dihydropyrimidine dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R235Q (p.Arg235Gln) variant details
- p.Arg235Gln
- rs755416212
- ClinGen CA963581
- ClinVar RCV000671470
- ClinVar RCV003332223
- Likely pathogenic
- Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.95
- MetaLR 0.89
- MetaSVM 0.99
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Dihydropyrimidine dehydrogenase deficiency)
- EBI: Likely pathogenic (in DPYDD)
- UniProt: Likely pathogenic (in DPYDD)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)