C29Y (p.Cys29Tyr) variant of DPYD (Q12882)
C29Y (p.Cys29Tyr) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
C29Y (p.Cys29Tyr) variant details
- p.Cys29Tyr
- rs528768620
- ClinGen CA963802
- ClinVar RCV001754147
- ExAC rs528768620
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.14
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in DPYDD)
- UniProt: Uncertain significance (in DPYDD)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available