S54N (p.Ser54Asn) variant of FUS (RNA-binding protein FUS)
S54N (p.Ser54Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- rs754613619
- ClinGen CA8023455
- ClinVar RCV003188393
- ExAC rs754613619
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.25
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)