R521C (p.Arg521Cys) variant of FUS (RNA-binding protein FUS)
R521C (p.Arg521Cys) 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 Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R521C (p.Arg521Cys) variant details
- p.Arg521Cys
- rs121909668
- ClinGen CA257441
- NCI-TCGA Cosmic COSV5421
- cosmic curated COSV54215
- Pathogenic
- Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.65
- AlphaMissense 0.94
- MetaLR 0.85
- MetaSVM 0.44
- CADD 25.30
- PolyPhen-2 0.09
- ClinVar: Pathogenic (Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis t)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. (PMID 12840784)
- Cited in: Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. (PMID 19251627)