A72N (p.Ala72Asn) variant of DPYD (Q12882)
A72N (p.Ala72Asn) in DPYD (Q12882) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
A72N (p.Ala72Asn) variant details
- p.Ala72Asn
- rs2525244930
- ClinGen CA2695198095
- ClinVar RCV003467847
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)