D96H (p.Asp96His) variant of DPYD (Q12882)
D96H (p.Asp96His) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D96H (p.Asp96His) variant details
- p.Asp96His
- ExAC rs773159364
- TOPMed rs773159364
- gnomAD rs773159364
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.65
- MetaLR 0.69
- MetaSVM 0.40
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available