Q88R (p.Gln88Arg) variant of DPYD (Q12882)
Q88R (p.Gln88Arg) in DPYD (Q12882) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q88R (p.Gln88Arg) variant details
- p.Gln88Arg
- gnomAD rs938680293
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.71
- MetaLR 0.54
- MetaSVM 0.07
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available