S56F (p.Ser56Phe) variant of FUS (RNA-binding protein FUS)
S56F (p.Ser56Phe) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S56F (p.Ser56Phe) variant details
- p.Ser56Phe
- gnomAD rs1347246851
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.48
- CADD 17.30
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available