S53G (p.Ser53Gly) variant of BBS2 (BBSome complex member BBS2)
S53G (p.Ser53Gly) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- Ensembl rs1964682198
- Missense
- Structural context available