P29R (p.Pro29Arg) variant of BBS2 (BBSome complex member BBS2)
P29R (p.Pro29Arg) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- ExAC rs771211831
- TOPMed rs771211831
- gnomAD rs771211831
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available