A50T (p.Ala50Thr) variant of BBS4 (BBSome complex member BBS4)
A50T (p.Ala50Thr) in BBS4 (BBSome complex member BBS4) is a missense change. The record also includes structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- TOPMed rs1210338376
- Missense
- Structural context available