S48S (p.Ser48Ser) variant of FUS (RNA-binding protein FUS)
S48S (p.Ser48Ser) in FUS (RNA-binding protein FUS) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- rs80060438
- gnomAD 16-31182618-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 16.70
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available