T11S (p.Thr11Ser) variant of FUS (RNA-binding protein FUS)
T11S (p.Thr11Ser) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T11S (p.Thr11Ser) variant details
- p.Thr11Ser
- ExAC rs750230722
- TOPMed rs750230722
- gnomAD rs750230722
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.24
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available