K27T (p.Lys27Thr) variant of ABCB1 (ATP-dependent translocase ABCB1)
K27T (p.Lys27Thr) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
K27T (p.Lys27Thr) variant details
- p.Lys27Thr
- gnomAD rs1202446124
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available