R7S (p.Arg7Ser) variant of ABCB1 (ATP-dependent translocase ABCB1)
R7S (p.Arg7Ser) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- ExAC rs758755760
- TOPMed rs758755760
- gnomAD rs758755760
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available