C77W (p.Cys77Trp) variant of BBS2 (BBSome complex member BBS2)
C77W (p.Cys77Trp) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
C77W (p.Cys77Trp) variant details
- p.Cys77Trp
- TOPMed rs1964679347
- Missense
- Structural context available