C307R (p.Cys307Arg) variant of BBS2 (BBSome complex member BBS2)
C307R (p.Cys307Arg) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 2. The record also includes structural context.
C307R (p.Cys307Arg) variant details
- p.Cys307Arg
- gnomAD rs1248832164
- Likely pathogenic
- Bardet-Biedl syndrome 2
- Missense
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 2)
- UniProt: Likely pathogenic (in BBS2)
- Structural context available