A11T (p.Ala11Thr) variant of ABCB1 (ATP-dependent translocase ABCB1)
A11T (p.Ala11Thr) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- Ensembl rs2130001328
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 8.23
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available