T93I (p.Thr93Ile) variant of ABCB1 (ATP-dependent translocase ABCB1)
T93I (p.Thr93Ile) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
T93I (p.Thr93Ile) variant details
- p.Thr93Ile
- rs763019957
- ClinGen CA4328647
- ClinVar RCV004412768
- ExAC rs763019957
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0633
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available