D8V (p.Asp8Val) variant of DPYD (Q12882)
D8V (p.Asp8Val) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
D8V (p.Asp8Val) variant details
- p.Asp8Val
- ExAC rs769190350
- TOPMed rs769190350
- gnomAD rs769190350
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.67
- MetaLR 0.78
- MetaSVM 0.67
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.05
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available