L49S (p.Leu49Ser) variant of ABCB1 (ATP-dependent translocase ABCB1)
L49S (p.Leu49Ser) 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 0.60 / 1. The record also includes population frequency data and structural context.
L49S (p.Leu49Ser) variant details
- p.Leu49Ser
- ExAC rs202240722
- TOPMed rs202240722
- gnomAD rs202240722
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 22.80
- PolyPhen-2 0.32
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available