P48L (p.Pro48Leu) variant of CLCN5 (P51795)
P48L (p.Pro48Leu) in CLCN5 (P51795) is a missense change. The record also includes structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- cosmic curated COSV10442
- Missense
- Structural context available