L83R (p.Leu83Arg) variant of ABCC2 (Q92887)
L83R (p.Leu83Arg) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L83R (p.Leu83Arg) variant details
- p.Leu83Arg
- TOPMed rs1199759177
- gnomAD rs1199759177
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 26.50
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available