C52R (p.Cys52Arg) variant of DPYD (Q12882)
C52R (p.Cys52Arg) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C52R (p.Cys52Arg) variant details
- p.Cys52Arg
- Ensembl rs1012717787
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.54
- MetaLR 0.41
- MetaSVM -0.25
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available