R514G (p.Arg514Gly) variant of FUS (RNA-binding protein FUS)
R514G (p.Arg514Gly) 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 0.84 / 1. The record also includes published literature and structural context.
R514G (p.Arg514Gly) variant details
- p.Arg514Gly
- rs1555509609
- ClinGen CA395676122
- ClinVar RCV003783686
- ClinVar RCV005410966
- Pathogenic
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.96
- MetaLR 0.87
- MetaSVM 0.85
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.53
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Pathogenic (in ALS6)
- UniProt: Pathogenic (in ALS6)
- Structural context available
- Cited in: Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. (PMID 19251628)
- Cited in: Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. (PMID 19251627)