L19Q (p.Leu19Gln) variant of PMP22 (Peripheral myelin protein 22)
L19Q (p.Leu19Gln) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in DSS. The record also includes structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- TOPMed rs1597635666
- Uncertain significance
- in DSS
- Missense
- EBI: Variant of uncertain significance (in DSS)
- UniProt: Uncertain significance (in DSS)
- Structural context available