R124Q (p.Arg124Gln) variant of CYP2C8 (Cytochrome P450 2C8)
R124Q (p.Arg124Gln) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R124Q (p.Arg124Gln) variant details
- p.Arg124Gln
- ESP rs369591911
- ExAC rs369591911
- TOPMed rs369591911
- gnomAD rs369591911
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.39
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available