T47P (p.Thr47Pro) variant of FUS (RNA-binding protein FUS)
T47P (p.Thr47Pro) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T47P (p.Thr47Pro) variant details
- p.Thr47Pro
- gnomAD 16-31182613-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.49
- MetaLR 0.59
- MetaSVM -0.09
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.21
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available