D46G (p.Asp46Gly) variant of DPYD (Q12882)
D46G (p.Asp46Gly) in DPYD (Q12882) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- ExAC rs756684474
- TOPMed rs756684474
- gnomAD rs756684474
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.43
- MetaLR 0.41
- MetaSVM -0.32
- CADD 29.90
- PolyPhen-2 0.19
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available