D8E (p.Asp8Glu) variant of DPYD (Q12882)
D8E (p.Asp8Glu) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D8E (p.Asp8Glu) variant details
- p.Asp8Glu
- Ensembl rs2101728145
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.26
- MetaLR 0.40
- MetaSVM -0.60
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available