Q43L (p.Gln43Leu) variant of FUS (RNA-binding protein FUS)
Q43L (p.Gln43Leu) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q43L (p.Gln43Leu) variant details
- p.Gln43Leu
- gnomAD 16-31182602-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.64
- MetaLR 0.58
- MetaSVM 0.22
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available