I116V (p.Ile116Val) variant of DPYD (Q12882)
I116V (p.Ile116Val) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I116V (p.Ile116Val) variant details
- p.Ile116Val
- gnomAD rs1054239986
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.38
- MetaLR 0.57
- MetaSVM 0.26
- CADD 25.30
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available