R22L (p.Arg22Leu) variant of BBS4 (BBSome complex member BBS4)
R22L (p.Arg22Leu) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- ExAC rs775955872
- TOPMed rs775955872
- gnomAD rs775955872
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available