T130C (p.Thr130Cys) variant of VPS13C (Q709C8)

T130C (p.Thr130Cys) in VPS13C (Q709C8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

T130C (p.Thr130Cys) variant details