Y50C (p.Tyr50Cys) variant of FUS (RNA-binding protein FUS)
Y50C (p.Tyr50Cys) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y50C (p.Tyr50Cys) variant details
- p.Tyr50Cys
- rs1480335769
- gnomAD rs1480335769
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.66
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available