L49F (p.Leu49Phe) variant of ABCB1 (ATP-dependent translocase ABCB1)
L49F (p.Leu49Phe) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar 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 0.06 / 1. The record also includes population frequency data and structural context.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- 1000Genomes rs192850609
- ExAC rs192850609
- TOPMed rs192850609
- gnomAD rs192850609
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0559
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available