S61N (p.Ser61Asn) variant of FUS (RNA-binding protein FUS)
S61N (p.Ser61Asn) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S61N (p.Ser61Asn) variant details
- p.Ser61Asn
- rs777365216
- ClinGen CA8023460
- ClinVar RCV001035313
- ExAC rs777365216
- Uncertain significance
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.26
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)