C79F (p.Cys79Phe) variant of DPYD (Q12882)
C79F (p.Cys79Phe) in DPYD (Q12882) is a missense change. 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.
C79F (p.Cys79Phe) variant details
- p.Cys79Phe
- gnomAD rs1474728674
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available