T89I (p.Thr89Ile) variant of PMP22 (Peripheral myelin protein 22)
T89I (p.Thr89Ile) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
T89I (p.Thr89Ile) variant details
- p.Thr89Ile
- 1000Genomes rs189205303
- TOPMed rs189205303
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available