G111E (p.Gly111Glu) variant of DPYD (Q12882)
G111E (p.Gly111Glu) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G111E (p.Gly111Glu) variant details
- p.Gly111Glu
- ExAC rs762533012
- gnomAD rs762533012
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.55
- MetaLR 0.54
- MetaSVM -0.25
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available