T47S (p.Thr47Ser) variant of FUS (RNA-binding protein FUS)
T47S (p.Thr47Ser) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T47S (p.Thr47Ser) variant details
- p.Thr47Ser
- gnomAD rs1300722518
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.29
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available