R521S (p.Arg521Ser) variant of FUS (RNA-binding protein FUS)
R521S (p.Arg521Ser) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4. The record also includes structural context.
R521S (p.Arg521Ser) variant details
- p.Arg521Ser
- gnomAD rs121909668
- Pathogenic
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Structural context available