Q23L (p.Gln23Leu) variant of FUS (RNA-binding protein FUS)
Q23L (p.Gln23Leu) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- gnomAD 16-31182542-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.65
- CADD 29.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available