T45A (p.Thr45Ala) variant of FUS (RNA-binding protein FUS)
T45A (p.Thr45Ala) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T45A (p.Thr45Ala) variant details
- p.Thr45Ala
- gnomAD 16-31182607-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -1.00
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available