G5A (p.Gly5Ala) variant of ABCB1 (ATP-dependent translocase ABCB1)
G5A (p.Gly5Ala) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- ExAC rs747238624
- TOPMed rs747238624
- gnomAD rs747238624
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 6.18
- PolyPhen-2 0.03
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available