P86L (p.Pro86Leu) variant of DPYD (Q12882)
P86L (p.Pro86Leu) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Dihydropyrimidine dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P86L (p.Pro86Leu) variant details
- p.Pro86Leu
- rs568132506
- ClinGen CA963745
- cosmic curated COSV10737
- ClinVar RCV001329029
- Pathogenic/Likely pathogenic
- not provided; Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.85
- MetaLR 0.65
- MetaSVM 0.28
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Dihydropyrimidine dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)