S50R (p.Ser50Arg) variant of BTD (Biotinidase)
S50R (p.Ser50Arg) in BTD (Biotinidase) is a missense change. The record also includes structural context.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- ExAC rs761951282
- gnomAD rs761951282
- Missense
- Structural context available