R67L (p.Arg67Leu) variant of BBS1 (BBSome complex member BBS1)
R67L (p.Arg67Leu) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R67L (p.Arg67Leu) variant details
- p.Arg67Leu
- ESP rs145718265
- ExAC rs145718265
- TOPMed rs145718265
- gnomAD rs145718265
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available