S76R (p.Ser76Arg) variant of BBS2 (BBSome complex member BBS2)
S76R (p.Ser76Arg) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- TOPMed rs1964679661
- Missense
- Structural context available