K27E (p.Lys27Glu) variant of ABCB1 (ATP-dependent translocase ABCB1)
K27E (p.Lys27Glu) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K27E (p.Lys27Glu) variant details
- p.Lys27Glu
- TOPMed rs1424498745
- gnomAD rs1424498745
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available