T7I (p.Thr7Ile) variant of BBS2 (BBSome complex member BBS2)
T7I (p.Thr7Ile) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- TOPMed rs1437053685
- Missense
- Structural context available