A67S (p.Ala67Ser) variant of PMP22 (Peripheral myelin protein 22)
A67S (p.Ala67Ser) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HNPP. The record also includes structural context.
A67S (p.Ala67Ser) variant details
- p.Ala67Ser
- TOPMed rs104894623
- Pathogenic
- in HNPP
- Missense
- EBI: Pathogenic (in HNPP)
- UniProt: Pathogenic (in HNPP)
- Structural context available