Y55C (p.Tyr55Cys) variant of FUS (RNA-binding protein FUS)
Y55C (p.Tyr55Cys) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- rs1596890201
- ClinGen CA395665174
- ClinVar RCV002403631
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.55
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)