R9I (p.Arg9Ile) variant of BBS4 (BBSome complex member BBS4)

R9I (p.Arg9Ile) 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.

R9I (p.Arg9Ile) variant details