S48L (p.Ser48Leu) variant of FUS (RNA-binding protein FUS)
S48L (p.Ser48Leu) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- gnomAD rs2079196677
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.48
- CADD 28.50
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available