L19Q (p.Leu19Gln) variant of ABCB1 (ATP-dependent translocase ABCB1)
L19Q (p.Leu19Gln) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- rs200915526
- ClinGen CA4328713
- ClinVar RCV004193203
- 1000Genomes rs200915526
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0734
- CADD 0.74
- PolyPhen-2 0.01
- SIFT 0.65
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available