R17Q (p.Arg17Gln) variant of BBS2 (BBSome complex member BBS2)
R17Q (p.Arg17Gln) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- ExAC rs746353796
- gnomAD rs746353796
- Missense
- Structural context available