L43R (p.Leu43Arg) variant of CYP2D6 (Cytochrome P450 2D6)
L43R (p.Leu43Arg) in CYP2D6 (Cytochrome P450 2D6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L43R (p.Leu43Arg) variant details
- p.Leu43Arg
- ExAC rs750859276
- TOPMed rs750859276
- gnomAD rs750859276
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available