R125L (p.Arg125Leu) variant of CYP2C8 (Cytochrome P450 2C8)
R125L (p.Arg125Leu) in CYP2C8 (Cytochrome P450 2C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R125L (p.Arg125Leu) variant details
- p.Arg125Leu
- ExAC rs775342549
- TOPMed rs775342549
- gnomAD rs775342549
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available