V124M (p.Val124Met) variant of BBS2 (BBSome complex member BBS2)
V124M (p.Val124Met) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
V124M (p.Val124Met) variant details
- p.Val124Met
- gnomAD rs1266818075
- Missense
- Structural context available