A2S (p.Ala2Ser) variant of DPYD (Q12882)
A2S (p.Ala2Ser) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dihydropyrimidine dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs1232582100
- ClinGen CA341379163
- ClinVar RCV001106103
- TOPMed rs1232582100
- Uncertain significance
- Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.15
- MetaLR 0.32
- MetaSVM -0.74
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Uncertain significance (Dihydropyrimidine dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)