I104V (p.Ile104Val) variant of DPYD (Q12882)
I104V (p.Ile104Val) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I104V (p.Ile104Val) variant details
- p.Ile104Val
- ExAC rs768288280
- gnomAD rs768288280
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.29
- MetaLR 0.40
- MetaSVM -0.33
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available