E69G (p.Glu69Gly) variant of DPYD (Q12882)
E69G (p.Glu69Gly) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E69G (p.Glu69Gly) variant details
- p.Glu69Gly
- gnomAD rs1257265643
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.64
- MetaLR 0.48
- MetaSVM 0.04
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available