M1I (p.Met1Ile) variant of DPYD (Q12882)
M1I (p.Met1Ile) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs768020954
- ClinGen CA963857
- ClinVar RCV000409638
- Likely pathogenic
- Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.53
- MetaSVM 0.20
- PolyPhen-2 0.26
- SIFT 0.00
- MutPred 1.00
- ClinVar: Likely pathogenic (Dihydropyrimidine dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)