D110G (p.Asp110Gly) variant of BBS2 (BBSome complex member BBS2)
D110G (p.Asp110Gly) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
D110G (p.Asp110Gly) variant details
- p.Asp110Gly
- ExAC rs760138776
- TOPMed rs760138776
- gnomAD rs760138776
- Missense
- Structural context available