S57L (p.Ser57Leu) variant of PMP22 (Peripheral myelin protein 22)
S57L (p.Ser57Leu) in PMP22 (Peripheral myelin protein 22) is a missense change. The record also includes structural context.
S57L (p.Ser57Leu) variant details
- p.Ser57Leu
- cosmic curated COSV56603
- Missense
- Structural context available