M115I (p.Met115Ile) variant of DPYD (Q12882)
M115I (p.Met115Ile) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dihydropyrimidine dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
M115I (p.Met115Ile) variant details
- p.Met115Ile
- rs377169736
- NCI-TCGA Cosmic COSV6007
- cosmic curated COSV60078
- NCI-TCGA Cosmic COSV6008
- Uncertain significance
- not provided; Dihydropyrimidine dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.06
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; Dihydropyrimidine dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)