D65N (p.Asp65Asn) variant of BBS2 (BBSome complex member BBS2)

D65N (p.Asp65Asn) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

D65N (p.Asp65Asn) variant details