E53Q (p.Glu53Gln) variant of DPYD (Q12882)
E53Q (p.Glu53Gln) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- gnomAD rs1432796297
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.23
- MetaLR 0.31
- MetaSVM -0.70
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available