E53G (p.Glu53Gly) variant of DPYD (Q12882)
E53G (p.Glu53Gly) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E53G (p.Glu53Gly) variant details
- p.Glu53Gly
- ExAC rs757958938
- gnomAD rs757958938
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.23
- MetaLR 0.16
- MetaSVM -0.92
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available