K4R (p.Lys4Arg) variant of ABCC2 (Q92887)
K4R (p.Lys4Arg) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- Ensembl rs2037638821
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.80
- PolyPhen-2 0.08
- SIFT 0.52
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available