R521L (p.Arg521Leu) variant of FUS (RNA-binding protein FUS)
R521L (p.Arg521Leu) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
R521L (p.Arg521Leu) variant details
- p.Arg521Leu
- rs121909671
- ClinGen CA395677457
- ClinVar RCV001095437
- ClinVar RCV001386162
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.52
- PolyPhen-2 0.05
- SIFT 0.00
- MutPred 0.67
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)