S53T (p.Ser53Thr) variant of BBS2 (BBSome complex member BBS2)
S53T (p.Ser53Thr) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- Ensembl rs1597027805
- Missense
- Structural context available