S15C (p.Ser15Cys) variant of BBS4 (BBSome complex member BBS4)

S15C (p.Ser15Cys) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

S15C (p.Ser15Cys) variant details