Y25C (p.Tyr25Cys) variant of FUS (RNA-binding protein FUS)
Y25C (p.Tyr25Cys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y25C (p.Tyr25Cys) variant details
- p.Tyr25Cys
- ESP rs141516414
- ExAC rs141516414
- TOPMed rs141516414
- gnomAD rs141516414
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available