Y109C (p.Tyr109Cys) variant of DPYD (Q12882)
Y109C (p.Tyr109Cys) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y109C (p.Tyr109Cys) variant details
- p.Tyr109Cys
- gnomAD rs1312400771
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.89
- MetaLR 0.72
- MetaSVM 0.60
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available