I948T (p.Ile948Thr) variant of DPYD (Q12882)
I948T (p.Ile948Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
I948T (p.Ile948Thr) variant details
- p.Ile948Thr
- rs372307932
- ClinGen CA341374201
- ClinVar RCV003331802
- ESP rs372307932
- Likely pathogenic
- Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.94
- MetaLR 0.92
- MetaSVM 1.06
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Dihydropyrimidine dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)