R70L (p.Arg70Leu) variant of DPYD (Q12882)
R70L (p.Arg70Leu) in DPYD (Q12882) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R70L (p.Arg70Leu) variant details
- p.Arg70Leu
- ExAC rs767818267
- TOPMed rs767818267
- gnomAD rs767818267
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.61
- MetaLR 0.40
- MetaSVM -0.22
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available