G40A (p.Gly40Ala) variant of FUS (RNA-binding protein FUS)
G40A (p.Gly40Ala) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G40A (p.Gly40Ala) variant details
- p.Gly40Ala
- rs147066627
- ClinGen CA8023445
- ClinVar RCV002346886
- ClinVar RCV003096699
- Likely benign
- Inborn genetic diseases; Amyotrophic lateral sclerosis type 6; Tremor, hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.41
- CADD 20.50
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Likely benign (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 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)