T45M (p.Thr45Met) variant of FUS (RNA-binding protein FUS)
T45M (p.Thr45Met) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T45M (p.Thr45Met) variant details
- p.Thr45Met
- ExAC rs776850144
- TOPMed rs776850144
- gnomAD rs776850144
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available