S61G (p.Ser61Gly) variant of FUS (RNA-binding protein FUS)
S61G (p.Ser61Gly) 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 Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S61G (p.Ser61Gly) variant details
- p.Ser61Gly
- rs1481060391
- ClinGen CA395665302
- ClinVar RCV001311445
- ClinVar RCV003770632
- Uncertain significance
- Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.25
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)