S6C (p.Ser6Cys) variant of BRIP1 (Fanconi anemia group J protein)

S6C (p.Ser6Cys) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.

S6C (p.Ser6Cys) variant details