C77R (p.Cys77Arg) variant of BBS2 (BBSome complex member BBS2)
C77R (p.Cys77Arg) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
C77R (p.Cys77Arg) variant details
- p.Cys77Arg
- TOPMed rs1964679562
- gnomAD rs1964679562
- Missense
- Structural context available