P92T (p.Pro92Thr) variant of DPYD (Q12882)
P92T (p.Pro92Thr) 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 0.91 / 1. The record also includes population frequency data and structural context.
P92T (p.Pro92Thr) variant details
- p.Pro92Thr
- ESP rs143986398
- ExAC rs143986398
- TOPMed rs143986398
- gnomAD rs143986398
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available