V94M (p.Val94Met) variant of BBS2 (BBSome complex member BBS2)
V94M (p.Val94Met) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
V94M (p.Val94Met) variant details
- p.Val94Met
- ExAC rs762859210
- TOPMed rs762859210
- gnomAD rs762859210
- Missense
- Structural context available