K12Q (p.Lys12Gln) variant of ABCB1 (ATP-dependent translocase ABCB1)
K12Q (p.Lys12Gln) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K12Q (p.Lys12Gln) variant details
- p.Lys12Gln
- ExAC rs779268249
- TOPMed rs779268249
- gnomAD rs779268249
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 3.16
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available