T65R (p.Thr65Arg) variant of DPYD (Q12882)
T65R (p.Thr65Arg) 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 0.69 / 1. The record also includes population frequency data and structural context.
T65R (p.Thr65Arg) variant details
- p.Thr65Arg
- 1000Genomes rs371587702
- ESP rs371587702
- ExAC rs371587702
- TOPMed rs371587702
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.70
- MetaLR 0.70
- MetaSVM 0.41
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available