G5V (p.Gly5Val) variant of ABCB1 (ATP-dependent translocase ABCB1)
G5V (p.Gly5Val) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- ExAC rs747238624
- TOPMed rs747238624
- gnomAD rs747238624
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 14.20
- PolyPhen-2 0.19
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available