F112S (p.Phe112Ser) variant of BBS2 (BBSome complex member BBS2)
F112S (p.Phe112Ser) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
F112S (p.Phe112Ser) variant details
- p.Phe112Ser
- Ensembl rs1964674570
- Missense
- Structural context available