T7I (p.Thr7Ile) variant of FUS (RNA-binding protein FUS)
T7I (p.Thr7Ile) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- gnomAD 16-31182404-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available