S201R (p.Ser201Arg) variant of DPYD (Q12882)
S201R (p.Ser201Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S201R (p.Ser201Arg) variant details
- p.Ser201Arg
- rs72549308
- ClinGen CA963612
- ClinVar RCV003466229
- ClinVar RCV005409932
- Likely pathogenic
- Dihydropyrimidine dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.90
- MetaLR 0.70
- MetaSVM 0.58
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Dihydropyrimidine dehydrogenase deficiency; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)