A117V (p.Ala117Val) variant of BBS2 (BBSome complex member BBS2)
A117V (p.Ala117Val) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- TOPMed rs1964569859
- Missense
- Structural context available