R518G (p.Arg518Gly) variant of FUS (RNA-binding protein FUS)
R518G (p.Arg518Gly) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.90 / 1. The record also includes published literature and structural context.
R518G (p.Arg518Gly) variant details
- p.Arg518Gly
- rs1409962577
- ClinGen CA395677361
- ClinVar RCV001297740
- gnomAD rs1409962577
- Uncertain significance
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.59
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Variant of uncertain significance (in ALS6)
- UniProt: Uncertain significance (in ALS6)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)