C29R (p.Cys29Arg) variant of DPYD (Q12882)
C29R (p.Cys29Arg) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of capecitabine response - Toxicity; fluorouracil response - Toxicity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C29R (p.Cys29Arg) variant details
- p.Cys29Arg
- rs1801265
- ClinGen CA114278
- ClinVar RCV000000464
- ClinVar RCV000711510
- drug response
- capecitabine response - Toxicity; fluorouracil response - Toxicity
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: drug response (capecitabine response - Toxicity; fluorouracil response - Toxici)
- EBI: Pathogenic (in DPYDD)
- UniProt: Pathogenic (in DPYDD)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)
- Cited in: The DNA sequence and biological annotation of human chromosome 1. (PMID 16710414)