K63E (p.Lys63Glu) variant of DPYD (Q12882)
K63E (p.Lys63Glu) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dihydropyrimidine dehydrogenase deficiency; Inborn genetic diseases; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K63E (p.Lys63Glu) variant details
- p.Lys63Glu
- rs367619008
- ClinGen CA963770
- ClinVar RCV000669112
- ClinVar RCV002531218
- Conflicting interpretations
- Dihydropyrimidine dehydrogenase deficiency; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.70
- MetaLR 0.42
- MetaSVM -0.32
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Dihydropyrimidine dehydrogenase deficiency; Inborn genetic disea)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)