T44A (p.Thr44Ala) variant of PMP22 (Peripheral myelin protein 22)
T44A (p.Thr44Ala) 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 structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- ExAC rs112651887
- TOPMed rs112651887
- gnomAD rs112651887
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available