R514S (p.Arg514Ser) variant of FUS (RNA-binding protein FUS)
R514S (p.Arg514Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R514S (p.Arg514Ser) variant details
- p.Arg514Ser
- rs1555509681
- cosmic curated COSV54218
- UniProt VAR 054839
- Ensembl rs1555509681
- Pathogenic
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.70
- CADD 27.10
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Population evidence available
- Structural context available
- Cited in: Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. (PMID 19251627)
- Cited in: Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. (PMID 19251628)