I42V (p.Ile42Val) variant of CYP2C9 (Cytochrome P450 2C9)
I42V (p.Ile42Val) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- ExAC rs111639787
- TOPMed rs111639787
- gnomAD rs111639787
- Missense
- Variant Prioritization Score for Impact Estimate 0.0694
- REVEL 0.07
- CADD 1.06
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available