T7A (p.Thr7Ala) variant of FUS (RNA-binding protein FUS)
T7A (p.Thr7Ala) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- ExAC rs753775282
- gnomAD rs753775282
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available