L59R (p.Leu59Arg) variant of BBS4 (BBSome complex member BBS4)
L59R (p.Leu59Arg) in BBS4 (BBSome complex member BBS4) is a missense change. The record also includes structural context.
L59R (p.Leu59Arg) variant details
- p.Leu59Arg
- ExAC rs777527843
- gnomAD rs777527843
- Missense
- Structural context available