Y110H (p.Tyr110His) variant of DPYD (Q12882)
Y110H (p.Tyr110His) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Y110H (p.Tyr110His) variant details
- p.Tyr110His
- rs1283205838
- ClinGen CA341376697
- ClinVar RCV003146860
- gnomAD rs1283205838
- Uncertain significance
- Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.57
- MetaLR 0.44
- MetaSVM -0.20
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dihydropyrimidine dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)