T8S (p.Thr8Ser) variant of BBS4 (BBSome complex member BBS4)
T8S (p.Thr8Ser) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- TOPMed rs2064831225
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available