Q43K (p.Gln43Lys) variant of FUS (RNA-binding protein FUS)
Q43K (p.Gln43Lys) in FUS (RNA-binding protein FUS) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q43K (p.Gln43Lys) variant details
- p.Gln43Lys
- TOPMed rs1247281589
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available