E109K (p.Glu109Lys) variant of ABCB1 (ATP-dependent translocase ABCB1)
E109K (p.Glu109Lys) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- 1000Genomes rs189559454
- ExAC rs189559454
- TOPMed rs189559454
- gnomAD rs189559454
- Missense
- Variant Prioritization Score for Impact Estimate 0.097
- CADD 4.57
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available