A2V (p.Ala2Val) variant of BBS1 (BBSome complex member BBS1)
A2V (p.Ala2Val) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1232711188
- Missense
- Structural context available