M1L (p.Met1Leu) variant of DPYD (Q12882)
M1L (p.Met1Leu) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs772950053
- ClinGen CA963858
- ClinVar RCV003236367
- Likely pathogenic
- Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- MetaLR 0.45
- MetaSVM -0.04
- PolyPhen-2 0.07
- SIFT 0.00
- MutPred 0.99
- 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)