R28L (p.Arg28Leu) variant of CYP2D6 (Cytochrome P450 2D6)
R28L (p.Arg28Leu) in CYP2D6 (Cytochrome P450 2D6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- ESP rs377617003
- ExAC rs377617003
- TOPMed rs377617003
- gnomAD rs377617003
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 18.80
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available