L56S (p.Leu56Ser) variant of ABCB1 (ATP-dependent translocase ABCB1)
L56S (p.Leu56Ser) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L56S (p.Leu56Ser) variant details
- p.Leu56Ser
- TOPMed rs1242728976
- gnomAD rs1242728976
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 19.50
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available