L67F (p.Leu67Phe) variant of ABCB1 (ATP-dependent translocase ABCB1)
L67F (p.Leu67Phe) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L67F (p.Leu67Phe) variant details
- p.Leu67Phe
- TOPMed rs1169254481
- gnomAD rs1169254481
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 22.70
- PolyPhen-2 0.89
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available