R13L (p.Arg13Leu) variant of BEST1 (Bestrophin-1)

R13L (p.Arg13Leu) in BEST1 (Bestrophin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in VMD2. The record also includes structural context.

R13L (p.Arg13Leu) variant details