I112V (p.Ile112Val) variant of CYP2C8 (Cytochrome P450 2C8)
I112V (p.Ile112Val) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- TOPMed rs2033592470
- Missense
- Variant Prioritization Score for Impact Estimate 0.0538
- REVEL 0.05
- CADD 0.04
- PolyPhen-2 0.04
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available