R7L (p.Arg7Leu) variant of ATXN1 (Ataxin-1)

R7L (p.Arg7Leu) in ATXN1 (Ataxin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

R7L (p.Arg7Leu) variant details