T11I (p.Thr11Ile) variant of FUS (RNA-binding protein FUS)
T11I (p.Thr11Ile) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- gnomAD 16-31182416-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.26
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available