F17L (p.Phe17Leu) variant of ABCB1 (ATP-dependent translocase ABCB1)
F17L (p.Phe17Leu) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs28381804
- UniProt VAR 022276
- 1000Genomes rs28381804
- ExAC rs28381804
- Missense
- Variant Prioritization Score for Impact Estimate 0.0681
- CADD 1.13
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available