G80S (p.Gly80Ser) variant of FUS (RNA-binding protein FUS)
G80S (p.Gly80Ser) 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; Amyotrophic lateral sclerosis type 6; Tremor, hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G80S (p.Gly80Ser) variant details
- p.Gly80Ser
- rs776474571
- ClinGen CA8023549
- ClinVar RCV001055722
- ClinVar RCV003363084
- Conflicting interpretations
- Inborn genetic diseases; Amyotrophic lateral sclerosis type 6; Tremor, hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Amyotrophic lateral sclerosis type 6; T)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-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)