A80E (p.Ala80Glu) variant of ABCB1 (ATP-dependent translocase ABCB1)
A80E (p.Ala80Glu) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A80E (p.Ala80Glu) variant details
- p.Ala80Glu
- rs9282565
- UniProt VAR 055424
- ExAC rs9282565
- TOPMed rs9282565
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 19.00
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available