A76V (p.Ala76Val) variant of DPYD (Q12882)
A76V (p.Ala76Val) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A76V (p.Ala76Val) variant details
- p.Ala76Val
- ExAC rs765131182
- gnomAD rs765131182
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.82
- MetaLR 0.73
- MetaSVM 0.63
- CADD 29.00
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available