S492L (p.Ser492Leu) variant of DPYD (Q12882)
S492L (p.Ser492Leu) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dihydropyrimidine dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S492L (p.Ser492Leu) variant details
- p.Ser492Leu
- rs72549304
- ClinGen CA963340
- NCI-TCGA Cosmic COSV6459
- ClinVar RCV000393255
- Pathogenic/Likely pathogenic
- Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.71
- MetaLR 0.66
- MetaSVM 0.42
- CADD 28.80
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Dihydropyrimidine dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)