N63S (p.Asn63Ser) variant of FUS (RNA-binding protein FUS)
N63S (p.Asn63Ser) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Amyotrophic lateral sclerosis type 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N63S (p.Asn63Ser) variant details
- p.Asn63Ser
- rs140883211
- ClinGen CA8023461
- ClinVar RCV000996260
- ClinVar RCV001858833
- Conflicting interpretations
- Inborn genetic diseases; not provided; Amyotrophic lateral sclerosis type 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.20
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Amyotrophic lateral scler)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)