V105I (p.Val105Ile) variant of BBS2 (BBSome complex member BBS2)
V105I (p.Val105Ile) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
V105I (p.Val105Ile) variant details
- p.Val105Ile
- gnomAD rs1964675710
- Missense
- Structural context available