S7P (p.Ser7Pro) variant of BBS1 (BBSome complex member BBS1)
S7P (p.Ser7Pro) 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.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- TOPMed rs903736005
- gnomAD rs903736005
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available