I78T (p.Ile78Thr) variant of ABCB1 (ATP-dependent translocase ABCB1)
I78T (p.Ile78Thr) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I78T (p.Ile78Thr) variant details
- p.Ile78Thr
- 1000Genomes rs202150907
- ESP rs202150907
- ExAC rs202150907
- TOPMed rs202150907
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 4.06
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available