L18V (p.Leu18Val) variant of PMP22 (Peripheral myelin protein 22)
L18V (p.Leu18Val) in PMP22 (Peripheral myelin protein 22) is a missense change. The record also includes structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- cosmic curated COSV56601
- Missense
- Structural context available