T47I (p.Thr47Ile) variant of FUS (RNA-binding protein FUS)
T47I (p.Thr47Ile) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- gnomAD 16-31182614-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.49
- MetaLR 0.65
- MetaSVM 0.39
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.42
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available