V56A (p.Val56Ala) variant of BBS1 (BBSome complex member BBS1)
V56A (p.Val56Ala) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- TOPMed rs1856006907
- Missense
- Structural context available