R521G (p.Arg521Gly) variant of FUS (RNA-binding protein FUS)
R521G (p.Arg521Gly) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
R521G (p.Arg521Gly) variant details
- p.Arg521Gly
- rs121909668
- ClinGen CA257437
- ClinVar RCV000017609
- ClinVar RCV000703284
- Likely pathogenic
- Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- AlphaMissense 0.94
- MetaLR 0.85
- MetaSVM 0.44
- PolyPhen-2 0.09
- SIFT 0.00
- MutPred 0.85
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Structural context available
- Cited in: Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. (PMID 12858291)
- Cited in: Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. (PMID 19251627)