I8M (p.Ile8Met) variant of PMP22 (Peripheral myelin protein 22)
I8M (p.Ile8Met) in PMP22 (Peripheral myelin protein 22) is a missense change. The record also includes structural context.
I8M (p.Ile8Met) variant details
- p.Ile8Met
- cosmic curated COSV56603
- Missense
- Structural context available