T71N (p.Thr71Asn) variant of FUS (RNA-binding protein FUS)
T71N (p.Thr71Asn) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T71N (p.Thr71Asn) variant details
- p.Thr71Asn
- gnomAD 16-31183879-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- MetaLR 0.39
- MetaSVM -0.54
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.18
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available