V54I (p.Val54Ile) variant of BBS4 (BBSome complex member BBS4)
V54I (p.Val54Ile) in BBS4 (BBSome complex member BBS4) is a missense change. The record also includes structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- TOPMed rs943785660
- Missense
- Structural context available