R50L (p.Arg50Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
R50L (p.Arg50Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The record also includes structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- ExAC rs11551633
- gnomAD rs11551633
- Missense
- Structural context available