S43A (p.Ser43Ala) variant of ABCB1 (ATP-dependent translocase ABCB1)
S43A (p.Ser43Ala) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S43A (p.Ser43Ala) variant details
- p.Ser43Ala
- ExAC rs759680987
- TOPMed rs759680987
- gnomAD rs759680987
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available