C91F (p.Cys91Phe) variant of DPYD (Q12882)
C91F (p.Cys91Phe) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DPYD-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
C91F (p.Cys91Phe) variant details
- p.Cys91Phe
- rs928681171
- ClinGen CA27656042
- ClinVar RCV003419171
- TOPMed rs928681171
- Uncertain significance
- DPYD-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- MetaLR 1.00
- MetaSVM 0.91
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (DPYD-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available