L62P (p.Leu62Pro) variant of PMP22 (Peripheral myelin protein 22)
L62P (p.Leu62Pro) 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.
L62P (p.Leu62Pro) variant details
- p.Leu62Pro
- ExAC rs756046682
- TOPMed rs756046682
- gnomAD rs756046682
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available