C136S (p.Cys136Ser) variant of DPYD (Q12882)
C136S (p.Cys136Ser) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
C136S (p.Cys136Ser) variant details
- p.Cys136Ser
- 1000Genomes rs2101026394
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.92
- CADD 26.20
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available