D119E (p.Asp119Glu) variant of DPYD (Q12882)
D119E (p.Asp119Glu) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D119E (p.Asp119Glu) variant details
- p.Asp119Glu
- ExAC rs777348913
- gnomAD rs777348913
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.61
- MetaLR 0.54
- MetaSVM -0.06
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available